| - GRCh37:
- Chr3:38603989
- GRCh38:
- Chr3:38562498
| SCN5A | A1240T, A1293T, A1294T | Brugada syndrome 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME | Uncertain significance (Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38651399
- GRCh38:
- Chr3:38609908
| SCN5A | M254L | not provided, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10
| Uncertain significance (Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592912
- GRCh38:
- Chr3:38551421
| SCN5A | M1597L, M1618L, M1632L, M1633L, M1650L, M1651L | not provided, Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10
| Uncertain significance (Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38616850
- GRCh38:
- Chr3:38575359
| SCN5A | V1202M, V1148M, V1201M | Brugada syndrome, Cardiovascular phenotype, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Brugada syndrome 1 | Uncertain significance (Mar 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38627370
- GRCh38:
- Chr3:38585879
| SCN5A | E867K | Brugada syndrome, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Brugada syndrome 1
| Uncertain significance (Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38639202
- GRCh38:
- Chr3:38597711
| SCN5A | | Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome
| Uncertain significance (Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592372
- GRCh38:
- Chr3:38550881
| SCN5A | N1777H, N1798H, N1812H, N1813H, N1830H, N1831H | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Brugada syndrome 1
| Uncertain significance (Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38603953
- GRCh38:
- Chr3:38562462
| SCN5A | R1252G, R1305G, R1306G | Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, not provided
| Uncertain significance (Jan 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38671925
- GRCh38:
- Chr3:38630434
| SCN5A | | Cardiovascular phenotype, not provided, Brugada syndrome, Brugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E ...see more | Uncertain significance (Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592774
- GRCh38:
- Chr3:38551283
| SCN5A | F1643L, F1664L, F1678L, F1679L, F1696L, F1697L | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A
| Uncertain significance (Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38616921
- GRCh38:
- Chr3:38575430
| SCN5A | C1124S, C1177S, C1178S | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38618163
- GRCh38:
- Chr3:38576672
| SCN5A | C1113Y, C1166Y, C1167Y | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome, not provided ...see more | Uncertain significance (Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591951-38591952
- GRCh38:
- Chr3:38550460-38550461
| SCN5A | | SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Cardiac arrhythmia
| Uncertain significance (Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38645299
- GRCh38:
- Chr3:38603808
| SCN5A | | Long QT syndrome 3, Atrial fibrillation, familial, 10, Brugada syndrome 1, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Brugada syndrome
| Conflicting interpretations of pathogenicity (Mar 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38627275
- GRCh38:
- Chr3:38585784
| SCN5A | | Brugada syndrome 1, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome, Cardiovascular phenotype | Likely benign (Oct 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38645416
- GRCh38:
- Chr3:38603925
| SCN5A | | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Brugada syndrome, Cardiovascular phenotype ...see more | Likely benign (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38651373
- GRCh38:
- Chr3:38609882
| SCN5A | | Brugada syndrome, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10
| Likely benign (Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38662437
- GRCh38:
- Chr3:38620946
| SCN5A | F170I | Brugada syndrome, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Brugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, not provided | Uncertain significance (Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38629052
- GRCh38:
- Chr3:38587561
| SCN5A | I759V | Cardiovascular phenotype, Long QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome 1, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Brugada syndrome, Cardiac arrhythmia ...see more | Uncertain significance (Oct 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38645480
- GRCh38:
- Chr3:38603989
| SCN5A | G538V | Long QT syndrome 3, Progressive familial heart block, type 1A, Brugada syndrome 1, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Dilated cardiomyopathy 1E, Brugada syndrome
| Uncertain significance (Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592324
- GRCh38:
- Chr3:38550833
| SCN5A | R1793G, R1814G, R1828G, R1829G, R1846G, R1847G | Brugada syndrome, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1
| Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592236
- GRCh38:
- Chr3:38550745
| SCN5A | E1822V, E1843V, E1857V, E1858V, E1875V, E1876V | Brugada syndrome, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1
| Uncertain significance (Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592049
- GRCh38:
- Chr3:38550558
| SCN5A | E1884D, E1905D, E1919D, E1920D, E1937D, E1938D | Left ventricular noncompaction 1, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A
| Uncertain significance (Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38622582
- GRCh38:
- Chr3:38581091
| LOC110121269, SCN5A | R1023P | Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Long QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Cardiovascular phenotype, Brugada syndrome | Uncertain significance (May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38595967
- GRCh38:
- Chr3:38554476
| SCN5A | C1485Y, C1520Y, C1521Y, C1538Y, C1539Y | Cardiovascular phenotype, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38663915
- GRCh38:
- Chr3:38622424
| SCN5A | P153L | Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Brugada syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME
| Uncertain significance (Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591853
- GRCh38:
- Chr3:38550362
| SCN5A | F1971I, F2004I, F1950I, F1985I, F2003I, F1986I | Cardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1, Brugada syndrome ...see more | Uncertain significance (Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38645234
- GRCh38:
- Chr3:38603743
| SCN5A | R620H | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1, Brugada syndrome | Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38618272
- GRCh38:
- Chr3:38576781
| SCN5A | T1077S, T1131S, T1130S | not provided, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1 | Uncertain significance (Oct 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38646350
- GRCh38:
- Chr3:38604859
| SCN5A | M463R | Brugada syndrome, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1 | Uncertain significance (Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38620907
- GRCh38:
- Chr3:38579416
| LOC110121269, SCN5A | S1102F, S1103F | not provided, Brugada syndrome, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1 ...see more | Uncertain significance (Jul 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38616874
- GRCh38:
- Chr3:38575383
| SCN5A | L1140M, L1193M, L1194M | not provided, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1 | Uncertain significance (Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38616928
- GRCh38:
- Chr3:38575437
| SCN5A | C1175R, C1176R, C1122R | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1
| Uncertain significance (Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38616887
- GRCh38:
- Chr3:38575396
| SCN5A | | Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1
| Conflicting interpretations of pathogenicity (Mar 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38640486
- GRCh38:
- Chr3:38598995
| SCN5A | C649Y | Cardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1, Brugada syndrome ...see more | Uncertain significance (Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592005
- GRCh38:
- Chr3:38550514
| SCN5A | S1899N, S1952N, S1920N, S1953N, S1935N, S1934N | Cardiovascular phenotype, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1 | Conflicting interpretations of pathogenicity (Oct 6, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38592406-38592408
- GRCh38:
- Chr3:38550915-38550917
| SCN5A | D1801N, D1819N, D1786N, D1818N, D1765N, D1800N | Cardiac arrhythmia, Cardiovascular phenotype, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1 | Conflicting interpretations of pathogenicity (Jan 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38640477
- GRCh38:
- Chr3:38598986
| SCN5A | G652D | Cardiac arrhythmia, Brugada syndrome, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1, not provided ...see more | Uncertain significance (Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38674570
- GRCh38:
- Chr3:38633079
| SCN5A | G77R | Brugada syndrome, Cardiac arrhythmia, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Brugada syndrome 1 | Uncertain significance (Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38590754
- GRCh38:
- Chr3:38549263
| SCN5A | | Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38592642
- GRCh38:
- Chr3:38551151
| SCN5A | D1687N, D1722N, D1723N, D1741N, D1708N, D1740N | Cardiovascular phenotype, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3 | Conflicting interpretations of pathogenicity (Apr 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38590069
- GRCh38:
- Chr3:38548578
| SCN5A | | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591153
- GRCh38:
- Chr3:38549662
| SCN5A | | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Long QT syndrome 3
| Uncertain significance (Sep 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590752
- GRCh38:
- Chr3:38549261
| SCN5A | | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590398
- GRCh38:
- Chr3:38548907
| SCN5A | | Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1
| Conflicting interpretations of pathogenicity (Mar 14, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38592610
- GRCh38:
- Chr3:38551119
| SCN5A | | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Brugada syndrome 1
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590010
- GRCh38:
- Chr3:38548519
| SCN5A | | Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589805
- GRCh38:
- Chr3:38548314
| SCN5A | | Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Sick sinus syndrome 1, Brugada syndrome 1
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591337
- GRCh38:
- Chr3:38549846
| SCN5A | | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38622705
- GRCh38:
- Chr3:38581214
| LOC110121269, SCN5A | C982Y | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591150
- GRCh38:
- Chr3:38549659
| SCN5A | | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38618157
- GRCh38:
- Chr3:38576666
| SCN5A | T1115S, T1169S, T1168S | Brugada syndrome, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Brugada syndrome 1 | Uncertain significance (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38601887
- GRCh38:
- Chr3:38560396
| SCN5A | | Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Brugada syndrome 1, Cardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia, not provided | Conflicting interpretations of pathogenicity (Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38616927
- GRCh38:
- Chr3:38575436
| SCN5A | C1122Y, C1175Y, C1176Y | Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38655281
- GRCh38:
- Chr3:38613790
| SCN5A | R219P | Dilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590646
- GRCh38:
- Chr3:38549155
| SCN5A | | Dilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590611
- GRCh38:
- Chr3:38549120
| SCN5A | | Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589992
- GRCh38:
- Chr3:38548501
| SCN5A | | Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38591681
- GRCh38:
- Chr3:38550190
| SCN5A | | Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38622761
- GRCh38:
- Chr3:38581270
| LOC110121269, SCN5A | | Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591225
- GRCh38:
- Chr3:38549734
| SCN5A | | Dilated cardiomyopathy 1E, Brugada syndrome 1, Long QT syndrome 3, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38591198
- GRCh38:
- Chr3:38549707
| SCN5A | | not provided, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1 | Benign/Likely benign (May 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591124
- GRCh38:
- Chr3:38549633
| SCN5A | | Dilated cardiomyopathy 1E, Long QT syndrome 3, Sick sinus syndrome 1, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38620953
- GRCh38:
- Chr3:38579462
| LOC110121269, SCN5A | A1088S, A1087S | Long QT syndrome 3, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38616906
- GRCh38:
- Chr3:38575415
| SCN5A | T1182I, T1183I, T1129I | Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Cardiac arrhythmia | Uncertain significance (Dec 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38691049
- GRCh38:
- Chr3:38649558
| SCN5A | | Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38601807
- GRCh38:
- Chr3:38560316
| SCN5A | K1305T, K1358T, K1359T | Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38598718
- GRCh38:
- Chr3:38557227
| SCN5A | | Brugada syndrome 1, Long QT syndrome 3, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590661
- GRCh38:
- Chr3:38549170
| SCN5A | | Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590528
- GRCh38:
- Chr3:38549037
| SCN5A | | Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Benign/Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38590257
- GRCh38:
- Chr3:38548766
| SCN5A | | Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38646370
- GRCh38:
- Chr3:38604879
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589969
- GRCh38:
- Chr3:38548478
| SCN5A | | Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38589928
- GRCh38:
- Chr3:38548437
| SCN5A | | Sick sinus syndrome 1, Brugada syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Benign/Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38592375
- GRCh38:
- Chr3:38550884
| SCN5A | P1776T, P1812T, P1829T, P1797T, P1830T, P1811T | Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38592339
- GRCh38:
- Chr3:38550848
| SCN5A | M1788L, M1809L, M1823L, M1841L, M1824L, M1842L | Brugada syndrome, Brugada syndrome 1, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3 | Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38607934
- GRCh38:
- Chr3:38566443
| SCN5A | N1215S, N1268S, N1269S | not provided, Dilated cardiomyopathy 1E, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Long QT syndrome 3, Brugada syndrome 1, Cardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1 | Uncertain significance (May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38629033
- GRCh38:
- Chr3:38587542
| SCN5A | T765I | Brugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Cardiovascular phenotype, Brugada syndrome | Uncertain significance (Feb 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592495
- GRCh38:
- Chr3:38551004
| SCN5A | D1736N, D1757N, D1790N, D1789N, D1771N, D1772N | Brugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome
| Uncertain significance (Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38646281
- GRCh38:
- Chr3:38604790
| SCN5A | T486S | Brugada syndrome 1, Long QT syndrome 3, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Brugada syndrome
| Uncertain significance (Mar 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38671878
- GRCh38:
- Chr3:38630387
| SCN5A | S106G | Cardiac arrhythmia, Brugada syndrome, Brugada syndrome 1, Sick sinus syndrome 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Long QT syndrome 3, Dilated cardiomyopathy 1E, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A | Uncertain significance (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38627348
- GRCh38:
- Chr3:38585857
| SCN5A | G874D | Brugada syndrome 1, Progressive familial heart block, type 1A, SUDDEN INFANT DEATH SYNDROME, Sick sinus syndrome 1, Long QT syndrome 3, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome
| Uncertain significance (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38674553
- GRCh38:
- Chr3:38633062
| SCN5A | D82E | Cardiovascular phenotype, SCN5A-related condition, Cardiac arrhythmia, Brugada syndrome, not provided, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Long QT syndrome 3, Sick sinus syndrome 1Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, ...see more | Uncertain significance (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38646221
- GRCh38:
- Chr3:38604730
| SCN5A | M506K | Cardiac arrhythmia, not provided, Brugada syndrome, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Progressive familial heart block, type 1A, Long QT syndrome 3, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10 ...see more | Uncertain significance (Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38674631
- GRCh38:
- Chr3:38633140
| SCN5A | | Long QT syndrome 3, Sick sinus syndrome 1, Brugada syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome
| Likely benign (Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38640440
- GRCh38:
- Chr3:38598949
| SCN5A | | Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Progressive familial heart block, type 1A, Cardiovascular phenotype, Cardiac arrhythmia, Brugada syndrome ...see more | Likely benign (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592013
- GRCh38:
- Chr3:38550522
| SCN5A | | Brugada syndrome, Cardiovascular phenotype, Dilated cardiomyopathy 1E, Cardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1
| Conflicting interpretations of pathogenicity (Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38603922
- GRCh38:
- Chr3:38562431
| SCN5A | R1262Q, R1315Q, R1316Q | Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Cardiac arrhythmia, Brugada syndrome | Uncertain significance (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38618221
- GRCh38:
- Chr3:38576730
| SCN5A | A1094T, A1147T, A1148T | Cardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1, Brugada syndrome | Uncertain significance (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38639300
- GRCh38:
- Chr3:38597809
| SCN5A | V728I | Cardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1, not provided, Cardiovascular phenotypeBrugada syndrome, not specified, ...see more | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38591895
- GRCh38:
- Chr3:38550404
| SCN5A | V1989L, V1990L, V1936L, V1972L, V1957L, V1971L | Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1, Cardiovascular phenotype, Long QT syndrome 3, Brugada syndrome, Cardiac arrhythmia
| Uncertain significance (Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38607942
- GRCh38:
- Chr3:38566451
| SCN5A | | Cardiac arrhythmia, not provided, Ventricular fibrillation, paroxysmal familial, type 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1, Sick sinus syndrome 1, Long QT syndrome 3, Cardiovascular phenotype, Brugada syndrome | Conflicting interpretations of pathogenicity (Apr 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38598729
- GRCh38:
- Chr3:38557238
| SCN5A | S1430C, S1431C, S1377C | Sick sinus syndrome 1, Progressive familial heart block, type 1A, Brugada syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Long QT syndrome 3, Cardiac arrhythmia, Dilated cardiomyopathy 1E | Uncertain significance (Aug 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38645487
- GRCh38:
- Chr3:38603996
| SCN5A | D536H | Cardiac arrhythmia, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1
| Uncertain significance (Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592457
- GRCh38:
- Chr3:38550966
| SCN5A | D1801E, D1802E, D1769E, D1784E, D1748E, D1783E | Cardiac arrhythmia, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1, SUDDEN INFANT DEATH SYNDROME, Atrial fibrillation, familial, 10, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome 1 | Uncertain significance (May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38655321
- GRCh38:
- Chr3:38613830
| SCN5A | T206S | Cardiovascular phenotype, SUDDEN INFANT DEATH SYNDROME, Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome 1, Sick sinus syndrome 1, Atrial fibrillation, familial, 10, Long QT syndrome 3, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, Brugada syndrome | Uncertain significance (Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592068
- GRCh38:
- Chr3:38550577
| SCN5A | A1931V, A1932V, A1878V, A1899V, A1913V, A1914V | Cardiovascular phenotype, Cardiac arrhythmia, Brugada syndrome, Long QT syndrome 3, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10Primary dilated cardiomyopathy, ...see more | Conflicting interpretations of pathogenicity (May 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38592488
- GRCh38:
- Chr3:38550997
| SCN5A | D1791V, D1792V, D1759V, D1774V, D1738V, D1773V | Brugada syndrome 1, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Ventricular fibrillation, paroxysmal familial, type 1, Dilated cardiomyopathy 1E, Atrial fibrillation, familial, 10, Brugada syndrome
| Uncertain significance (May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38592065
- GRCh38:
- Chr3:38550574
| SCN5A | G1933V, G1932V, G1914V, G1915V, G1879V, G1900V | Ventricular fibrillation, paroxysmal familial, type 1, Brugada syndrome, Cardiovascular phenotype, Long QT syndrome 3, Brugada syndrome 1, Sick sinus syndrome 1, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38622571
- GRCh38:
- Chr3:38581080
| LOC110121269, SCN5A | R1027W | Cardiovascular phenotype, Cardiac arrhythmia, Brugada syndrome, Long QT syndrome 3, Progressive familial heart block, type 1A, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1, Sick sinus syndrome 1, Ventricular fibrillation, paroxysmal familial, type 1, Atrial fibrillation, familial, 10 ...see more | Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |