| - GRCh37:
- Chr19:35530156
- GRCh38:
- Chr19:35039252
| SCN1B | E162A, E195A | Generalized epilepsy with febrile seizures plus, type 1, Brugada syndrome 5, Atrial fibrillation, familial, 13,
Developmental and epileptic encephalopathy, 52, not provided, Brugada syndrome 5
| Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35530132
- GRCh38:
- Chr19:35039228
| SCN1B | A154D, A187D | not provided, Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1,
Atrial fibrillation, familial, 13, Brugada syndrome 5, Developmental and epileptic encephalopathy, 52,
Cardiovascular phenotype | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524844
- GRCh38:
- Chr19:35033940
| SCN1B | Q217* | Atrial fibrillation, familial, 13, Brugada syndrome 5, Brugada syndrome 5,
not provided | Conflicting interpretations of pathogenicity
(Oct 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:35531073
- GRCh38:
- Chr19:35040169
| SCN1B | | Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52, Brugada syndrome 5,
Atrial fibrillation, familial, 13, Generalized epilepsy with febrile seizures plus, type 1, Brugada syndrome 5
| Uncertain significance
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35531000
- GRCh38:
- Chr19:35040096
| SCN1B | | Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52, Brugada syndrome 5,
Atrial fibrillation, familial, 13, Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1
| Uncertain significance
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524445
- GRCh38:
- Chr19:35033541
| SCN1B | E84K, E51K | Brugada syndrome 5, Developmental and epileptic encephalopathy, 52, Brugada syndrome 5,
Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13, Cardiovascular phenotype
| Uncertain significance
(Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524542
- GRCh38:
- Chr19:35033638
| SCN1B | S116L, S83L | Inborn genetic diseases, not provided, Developmental and epileptic encephalopathy, 52,
Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52, Brugada syndrome 5,
Atrial fibrillation, familial, 13, Generalized epilepsy with febrile seizures plus, type 1, Brugada syndrome 5
| Uncertain significance
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35523549
- GRCh38:
- Chr19:35032645
| SCN1B | T53N, T20N | Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1,
Atrial fibrillation, familial, 13, Brugada syndrome 5 | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524610
- GRCh38:
- Chr19:35033706
| SCN1B | V139I, V106I | Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52,
Atrial fibrillation, familial, 13, Brugada syndrome 5, not provided,
Cardiovascular phenotype | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:35524591
- GRCh38:
- Chr19:35033687
| SCN1B | | Generalized epilepsy with febrile seizures plus, type 1, Brugada syndrome 5, Developmental and epileptic encephalopathy, 52,
Atrial fibrillation, familial, 13, not provided, Brugada syndrome 5
| Likely benign
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524835
- GRCh38:
- Chr19:35033931
| SCN1B | R214W | Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13, Brugada syndrome 5,
Developmental and epileptic encephalopathy, 52, not provided, Brugada syndrome 5
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524746
- GRCh38:
- Chr19:35033842
| SCN1B | P184L | not provided, Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52,
Brugada syndrome 5, Atrial fibrillation, familial, 13, Brugada syndrome 5
| Uncertain significance
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35523524
- GRCh38:
- Chr19:35032620
| SCN1B | R45C, R12C | not specified, not provided, Brugada syndrome 5,
Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13, Developmental and epileptic encephalopathy, 52,
Brugada syndrome 5 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524766
- GRCh38:
- Chr19:35033862
| SCN1B | R191W | Generalized epilepsy with febrile seizures plus, type 1, Brugada syndrome 5, Developmental and epileptic encephalopathy, 52,
Atrial fibrillation, familial, 13, Brugada syndrome 5, not provided
| Uncertain significance
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524568
- GRCh38:
- Chr19:35033664
| SCN1B | R125C, R92C | not provided, Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, Brugada syndrome 5,
Seizure | Conflicting interpretations of pathogenicity
(Nov 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:35521637
- GRCh38:
- Chr19:35030733
| SCN1B | | Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13, Developmental and epileptic encephalopathy, 52,
Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1, Brugada syndrome 5
| Uncertain significance
(Dec 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35530525
- GRCh38:
- Chr19:35039621
| SCN1B | | Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52,
Atrial fibrillation, familial, 13, not specified, Brugada syndrome 5,
Generalized epilepsy with febrile seizures plus, type 1, not provided | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524569
- GRCh38:
- Chr19:35033665
| SCN1B | R125H, R92H | Atrial fibrillation, familial, 13, Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52,
Brugada syndrome 5, not provided, not specified,
Brugada syndrome 5 | Uncertain significance
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35523473
- GRCh38:
- Chr19:35032569
| SCN1B | T28A | Cardiovascular phenotype, Atrial fibrillation, familial, 13, Generalized epilepsy with febrile seizures plus, type 1,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, not provided,
Brugada syndrome 5 | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35530162
- GRCh38:
- Chr19:35039258
| SCN1B | A197V, A164V | not provided, Cardiovascular phenotype, Generalized epilepsy with febrile seizures plus, type 1,
Atrial fibrillation, familial, 13, Developmental and epileptic encephalopathy, 52, Brugada syndrome 5,
Brugada syndrome 5 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35521762
- GRCh38:
- Chr19:35030858
| SCN1B | L13P | Cardiovascular phenotype, Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, not specified,
not provided, Brugada syndrome 5 | Uncertain significance
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524461
- GRCh38:
- Chr19:35033557
| SCN1B | R89H, R56H | Cardiovascular phenotype, Atrial fibrillation, familial, 13, Generalized epilepsy with febrile seizures plus, type 1,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, not provided,
Brugada syndrome 5 | Conflicting interpretations of pathogenicity
(Jul 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:35523525
- GRCh38:
- Chr19:35032621
| SCN1B | R45H, R12H | Cardiovascular phenotype, Atrial fibrillation, familial, 13, Generalized epilepsy with febrile seizures plus, type 1,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, not provided,
Brugada syndrome 5 | Uncertain significance
(Jun 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524964
- GRCh38:
- Chr19:35034060
| SCN1B | G257R | not provided, Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, not specified,
Cardiovascular phenotype, Brugada syndrome 5 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524836
- GRCh38:
- Chr19:35033932
| SCN1B | R214Q | not specified, Developmental and epileptic encephalopathy, 52, Atrial fibrillation, familial, 13,
not provided, Long QT syndrome, Brugada syndrome 5,
Generalized epilepsy with febrile seizures plus, type 1 | Conflicting interpretations of pathogenicity
(Jul 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:35524462
- GRCh38:
- Chr19:35033558
| SCN1B | | Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1,
Atrial fibrillation, familial, 13, Cardiovascular phenotype, not provided,
not specified, Brugada syndrome 5, Seizure
| Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35530029
- GRCh38:
- Chr19:35039125
| SCN1B | D153N, D120N | Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1, Developmental and epileptic encephalopathy, 52,
Atrial fibrillation, familial, 13, not provided, Cardiovascular phenotype,
Brugada syndrome 5, not specified | Uncertain significance
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524449
- GRCh38:
- Chr19:35033545
| SCN1B | R85H, R52H | Cardiovascular phenotype, Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation, familial, 13,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, not provided,
Brugada syndrome 5 | Pathogenic/Likely pathogenic
(Mar 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35524558
- GRCh38:
- Chr19:35033654
| SCN1B | C121W, C88W | Cardiovascular phenotype, Atrial fibrillation, familial, 13, not provided,
Generalized epilepsy with febrile seizures plus, Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1,
Developmental and epileptic encephalopathy, 52, Brugada syndrome 5, Atrial fibrillation, familial, 13,
Generalized epilepsy with febrile seizures plus, type 1 | Pathogenic/Likely pathogenic
(May 24, 2023) | criteria provided, multiple submitters, no conflicts |