| - GRCh37:
- Chr12:6483817
- GRCh38:
- Chr12:6374651
| SCNN1A | E104Q, E45Q, E68Q | Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(May 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6458506
- GRCh38:
- Chr12:6349340
| SCNN1A | R476W, R499W, R535W | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1,
Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6458146
- GRCh38:
- Chr12:6348980
| SCNN1A | R508Q, R531Q, R567Q | Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6458084
- GRCh38:
- Chr12:6348918
| SCNN1A | | Liddle syndrome 3, not provided, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6472836
- GRCh38:
- Chr12:6363670
| SCNN1A | I153F, I176F, I212F | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 3,
Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6472719
- GRCh38:
- Chr12:6363553
| SCNN1A | R192fs, R215fs, R251fs | Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Pathogenic
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456859
- GRCh38:
- Chr12:6347693
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456687
- GRCh38:
- Chr12:6347521
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456653
- GRCh38:
- Chr12:6347487
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456019
- GRCh38:
- Chr12:6346853
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Apr 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6458571
- GRCh38:
- Chr12:6349405
| SCNN1A | G454E, G477E, G513E | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3,
Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6457248
- GRCh38:
- Chr12:6348082
| SCNN1A | G601R, G624R, G660R | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457244
- GRCh38:
- Chr12:6348078
| SCNN1A | A625V, A602V, A661V | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6456572
- GRCh38:
- Chr12:6347406
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6456571
- GRCh38:
- Chr12:6347405
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456530
- GRCh38:
- Chr12:6347364
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6472891
- GRCh38:
- Chr12:6363725
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6484675
- GRCh38:
- Chr12:6375509
| LTBR, SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6471315
- GRCh38:
- Chr12:6362149
| SCNN1A | I282M, I318M, I259M | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3,
Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6458538
- GRCh38:
- Chr12:6349372
| SCNN1A | S465F, S488F, S524F | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457045
- GRCh38:
- Chr12:6347879
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6456497
- GRCh38:
- Chr12:6347331
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6484016
- GRCh38:
- Chr12:6374850
| SCNN1A | | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3,
Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6458336
- GRCh38:
- Chr12:6349170
| SCNN1A | | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456970
- GRCh38:
- Chr12:6347804
| SCNN1A | | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456373
- GRCh38:
- Chr12:6347207
| SCNN1A | | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456312
- GRCh38:
- Chr12:6347146
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6458492
- GRCh38:
- Chr12:6349326
| SCNN1A | | Autosomal recessive pseudohypoaldosteronism type 1, Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2,
Liddle syndrome 3 | Pathogenic/Likely pathogenic
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6483824
- GRCh38:
- Chr12:6374658
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6483803
- GRCh38:
- Chr12:6374637
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6458149
- GRCh38:
- Chr12:6348983
| SCNN1A | S530L, S507L, S566L | Inborn genetic diseases, not provided, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 2 | Conflicting interpretations of pathogenicity
(Dec 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6464507
- GRCh38:
- Chr12:6355341
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3, Autosomal recessive pseudohypoaldosteronism type 1,
not provided | Likely benign
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6457332
- GRCh38:
- Chr12:6348166
| SCNN1A | V573I, V596I, V632I | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1, not provided
| Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6457968
- GRCh38:
- Chr12:6348802
| SCNN1A | | not specified, Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3,
Autosomal recessive pseudohypoaldosteronism type 1 | Likely benign
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6457278
- GRCh38:
- Chr12:6348112
| SCNN1A | R591*, R650*, R614* | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2 | Conflicting interpretations of pathogenicity
(Oct 16, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6484669
- GRCh38:
- Chr12:6375503
| LTBR, SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Jul 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6483881
- GRCh38:
- Chr12:6374715
| SCNN1A | N47fs, N83fs, N24fs | Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3, Autosomal recessive pseudohypoaldosteronism type 1
| Likely pathogenic
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6458376
- GRCh38:
- Chr12:6349210
| SCNN1A | Y484C, Y543C, Y507C | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6483565
- GRCh38:
- Chr12:6374399
| SCNN1A | A129T, A188T, A152T | Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6458497
- GRCh38:
- Chr12:6349331
| SCNN1A | C479R, C502R, C538R | Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2
| Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6484709
- GRCh38:
- Chr12:6375543
| LTBR, SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6484685
- GRCh38:
- Chr12:6375519
| LTBR, SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6484666
- GRCh38:
- Chr12:6375500
| LTBR, SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, not provided, Autosomal recessive pseudohypoaldosteronism type 1
| Benign
(Sep 6, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6484017
- GRCh38:
- Chr12:6374851
| SCNN1A | P37L | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6483997
- GRCh38:
- Chr12:6374831
| SCNN1A | K8E, K44E | not provided, not specified, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Nov 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6483876
- GRCh38:
- Chr12:6374710
| SCNN1A | K25R, K48R, K84R | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6483851
- GRCh38:
- Chr12:6374685
| SCNN1A | | not specified, not provided, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6483631
- GRCh38:
- Chr12:6374465
| SCNN1A | G107R, G130R, G166R | Bronchiectasis with or without elevated sweat chloride 2, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1,
Liddle syndrome 3, Inborn genetic diseases, Autosomal recessive pseudohypoaldosteronism type 1
| Uncertain significance
(Jul 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6472645
- GRCh38:
- Chr12:6363479
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6472600
- GRCh38:
- Chr12:6363434
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1,
Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Benign/Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6471346
- GRCh38:
- Chr12:6362180
| SCNN1A | R249K, R272K, R308K | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6471266
- GRCh38:
- Chr12:6362100
| SCNN1A | G276C, G299C, G335C | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6471252
- GRCh38:
- Chr12:6362086
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6465059
- GRCh38:
- Chr12:6355893
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6464978
- GRCh38:
- Chr12:6355812
| SCNN1A | N315S, N374S, N338S | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6464944
- GRCh38:
- Chr12:6355778
| SCNN1A | | not provided, not specified, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6464533
- GRCh38:
- Chr12:6355367
| SCNN1A | R350G, R409G, R373G | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6464508
- GRCh38:
- Chr12:6355342
| SCNN1A | E358G, E381G, E417G | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6463981
- GRCh38:
- Chr12:6354815
| SCNN1A | D393N, D416N, D452N | Inborn genetic diseases, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1,
Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Uncertain significance
(Nov 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6463917
- GRCh38:
- Chr12:6354751
| SCNN1A | Q414R, Q437R, Q473R | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6463665
- GRCh38:
- Chr12:6354499
| SCNN1A | | not provided, Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2
| Conflicting interpretations of pathogenicity
(May 1, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6458343
- GRCh38:
- Chr12:6349177
| SCNN1A | S495L, S554L, S518L | not specified, not provided, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jun 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6458342
- GRCh38:
- Chr12:6349176
| SCNN1A | | not specified, not provided, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jul 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6458324
- GRCh38:
- Chr12:6349158
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Mar 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457974
- GRCh38:
- Chr12:6348808
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457963
- GRCh38:
- Chr12:6348797
| SCNN1A | G520A, G579A, G543A | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457363
- GRCh38:
- Chr12:6348197
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457283
- GRCh38:
- Chr12:6348117
| SCNN1A | R589Q, R648Q, R612Q | Inborn genetic diseases, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Apr 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457114
- GRCh38:
- Chr12:6347948
| SCNN1A | | Autosomal recessive pseudohypoaldosteronism type 1, not provided, Bronchiectasis with or without elevated sweat chloride 2
| Conflicting interpretations of pathogenicity
(Jun 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6457035
- GRCh38:
- Chr12:6347869
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456969
- GRCh38:
- Chr12:6347803
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Benign/Likely benign
(Mar 7, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6456926
- GRCh38:
- Chr12:6347760
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6456925
- GRCh38:
- Chr12:6347759
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456743
- GRCh38:
- Chr12:6347577
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6456624
- GRCh38:
- Chr12:6347458
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456459
- GRCh38:
- Chr12:6347293
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456449
- GRCh38:
- Chr12:6347283
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456406
- GRCh38:
- Chr12:6347240
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Benign/Likely benign
(May 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6456303
- GRCh38:
- Chr12:6347137
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6456125
- GRCh38:
- Chr12:6346959
| SCNN1A | | not provided, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1
| Conflicting interpretations of pathogenicity
(May 19, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6456119
- GRCh38:
- Chr12:6346953
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6463942
- GRCh38:
- Chr12:6354776
| SCNN1A | L406I, L465I, L429I | not specified, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1,
Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6464584
- GRCh38:
- Chr12:6355418
| SCNN1A | R333C, R392C, R356C | not specified, Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 3,
Bronchiectasis with or without elevated sweat chloride 2 | Uncertain significance
(Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6472752-6472753
- GRCh38:
- Chr12:6363586-6363587
| SCNN1A | R204W, R181W, R240W | not specified, not provided, Autosomal recessive pseudohypoaldosteronism type 1,
Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6483977
- GRCh38:
- Chr12:6374811
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, not specified, Autosomal recessive pseudohypoaldosteronism type 1,
not provided | Benign/Likely benign
(May 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6472752
- GRCh38:
- Chr12:6363586
| SCNN1A | R181W, R204W, R240W | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3,
not provided, not specified, Bronchiectasis with or without elevated sweat chloride 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6472753
- GRCh38:
- Chr12:6363587
| SCNN1A | | Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3, Autosomal recessive pseudohypoaldosteronism type 1,
not specified, not provided, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 2 | Benign/Likely benign
(Nov 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6457196
- GRCh38:
- Chr12:6348030
| SCNN1A | C618F, C677F, C641F | not provided, not specified, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 2 | Benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6464581
- GRCh38:
- Chr12:6355415
| SCNN1A | A334T, A393T, A357T | not specified, not provided, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 2 | Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6457062
- GRCh38:
- Chr12:6347896
| SCNN1A | T663A, T722A, T686A | Liddle syndrome 3, not specified, not provided,
Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 2 | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6483709
- GRCh38:
- Chr12:6374543
| SCNN1A | R81C, R104C, R140C | Bronchiectasis with or without elevated sweat chloride 2 | Pathogenic
(Jul 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr12:6458350
- GRCh38:
- Chr12:6349184
| SCNN1A | W493R, W552R, W516R | not specified, not provided, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 2 | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6483610
- GRCh38:
- Chr12:6374444
| SCNN1A | V114I, V137I, V173I | not provided | Uncertain significance
(Apr 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6458147
- GRCh38:
- Chr12:6348981
| SCNN1A | R508*, R567*, R531* | Liddle syndrome 3, Bronchiectasis with or without elevated sweat chloride 2, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 2 | Pathogenic/Likely pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |