| - GRCh37:
- Chr19:55667631
- GRCh38:
- Chr19:55156263
| TNNI3 | R74C | Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 1FF, Cardiomyopathy, Cardiovascular phenotype,
not provided, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55663215
- GRCh38:
- Chr19:55151847
| TNNI3 | K207R | Hypertrophic cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF | Uncertain significance
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665481
- GRCh38:
- Chr19:55154113
| TNNI3 | Q156E | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:55673190
- GRCh38:
- Chr19:55161822
| DNAAF3, DNAAF3-AS1, TNNI3 | R108S, R162S, R209S, R230S | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Ciliary dyskinesia, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7 | Uncertain significance
(Feb 2, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55672066
- GRCh38:
- Chr19:55160698
| DNAAF3, DNAAF3-AS1, TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:55668422
- GRCh38:
- Chr19:55157054
| TNNI3 | A35D | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:55663158
- GRCh38:
- Chr19:55151790
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:55669002
- GRCh38:
- Chr19:55157634
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7 | Uncertain significance
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55668434
- GRCh38:
- Chr19:55157066
| TNNI3 | T31M | Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF | Uncertain significance
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55668422
- GRCh38:
- Chr19:55157054
| TNNI3 | A35V | Cardiomyopathy, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy
| Uncertain significance
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55668006-55668007
- GRCh38:
- Chr19:55156638-55156639
| TNNI3 | S39fs | Hypertrophic cardiomyopathy, not provided, Cardiomyopathy,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7 | Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665590
- GRCh38:
- Chr19:55154222
| TNNI3 | | Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided
| Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55668416
- GRCh38:
- Chr19:55157048
| TNNI3 | | not provided, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7 | Uncertain significance
(Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55666207
- GRCh38:
- Chr19:55154839
| TNNI3 | | not specified, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Apr 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55663296
- GRCh38:
- Chr19:55151928
| TNNI3 | | Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:55667978
- GRCh38:
- Chr19:55156610
| TNNI3 | Q48P | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667630
- GRCh38:
- Chr19:55156262
| TNNI3 | R74P | not provided, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55670808
- GRCh38:
- Chr19:55159440
| DNAAF3, DNAAF3-AS1, TNNI3 | | Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified, not provided,
Ciliary dyskinesia | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55668027
- GRCh38:
- Chr19:55156659
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, not specified,
Cardiomyopathy | Conflicting interpretations of pathogenicity
(Jun 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55663167
- GRCh38:
- Chr19:55151799
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not provided, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55665508
- GRCh38:
- Chr19:55154140
| TNNI3 | V147L | Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 1FF, Cardiomyopathy, Hypertrophic cardiomyopathy
| Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55669004
- GRCh38:
- Chr19:55157636
| TNNI3 | | not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55669055
- GRCh38:
- Chr19:55157687
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not provided, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55666125
- GRCh38:
- Chr19:55154757
| TNNI3 | T119I | Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy, not provided,
Cardiovascular phenotype | Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55666189
- GRCh38:
- Chr19:55154821
| TNNI3 | R98* | Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, not provided,
Hypertrophic cardiomyopathy, Cardiomyopathy | Uncertain significance
(May 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667989
- GRCh38:
- Chr19:55156621
| TNNI3 | | Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, not specified,
Cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667647
- GRCh38:
- Chr19:55156279
| TNNI3 | R69fs | Primary dilated cardiomyopathy, Myocarditis, Cardiovascular phenotype,
Primary familial dilated cardiomyopathy, not provided, not specified,
Cardiomyopathy, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Feb 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55667684
- GRCh38:
- Chr19:55156316
| TNNI3 | I56T | Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Uncertain significance
(Dec 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55666102
- GRCh38:
- Chr19:55154734
| TNNI3 | | Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
not specified, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55663261
- GRCh38:
- Chr19:55151893
| TNNI3 | R192C | Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7, not provided, Restrictive cardiomyopathy,
Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665463
- GRCh38:
- Chr19:55154095
| TNNI3 | R162W | Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 1FF, Cardiovascular phenotype, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55668992
- GRCh38:
- Chr19:55157624
| DNAAF3, TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
not specified, Ciliary dyskinesia, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667982
- GRCh38:
- Chr19:55156614
| TNNI3 | | Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
Cardiomyopathy, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55668029
- GRCh38:
- Chr19:55156661
| TNNI3 | | not specified, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, not provided,
Hypertrophic cardiomyopathy | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55668953
- GRCh38:
- Chr19:55157585
| TNNI3 | A2V | not specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy | Uncertain significance
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665410
- GRCh38:
- Chr19:55154042
| DNAAF3, TNNI3 | | Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
Ciliary dyskinesia, Cardiomyopathy, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55665462
- GRCh38:
- Chr19:55154094
| TNNI3 | R162Q | Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy ...see more | Pathogenic/Likely pathogenic
(May 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665513
- GRCh38:
- Chr19:55154145
| TNNI3 | R145Q | Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided,
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(May 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665525
- GRCh38:
- Chr19:55154157
| TNNI3 | R141Q | Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665578
- GRCh38:
- Chr19:55154210
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiovascular phenotype, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55665589
- GRCh38:
- Chr19:55154221
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified, not provided,
Cardiomyopathy, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55666125
- GRCh38:
- Chr19:55154757
| TNNI3 | T119N | Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, not specified,
not provided, Cardiomyopathy, Long QT syndrome,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 2AHypertrophic cardiomyopathy,
...see more | Uncertain significance
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667578
- GRCh38:
- Chr19:55156210
| TNNI3 | | Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55668509
- GRCh38:
- Chr19:55157141
| DNAAF3, TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
not specified, Ciliary dyskinesia, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667616
- GRCh38:
- Chr19:55156248
| TNNI3 | R79C | Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55667647
- GRCh38:
- Chr19:55156279
| DNAAF3, TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiovascular phenotype, not specified,
not provided, Ciliary dyskinesia, Cardiomyopathy,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55667653
- GRCh38:
- Chr19:55156285
| TNNI3 | | Cardiovascular phenotype, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
not specified, Familial restrictive cardiomyopathy, not provided,
Cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667706
- GRCh38:
- Chr19:55156338
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified, not provided,
Cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55667958
- GRCh38:
- Chr19:55156590
| TNNI3, DNAAF3 | | Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
Familial restrictive cardiomyopathy, Ciliary dyskinesia, Cardiomyopathy,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665584
- GRCh38:
- Chr19:55154216
| DNAAF3, TNNI3, TNNT1 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Nemaline Myopathy, Recessive, not specified,
Ciliary dyskinesia, Cardiomyopathy, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55663249
- GRCh38:
- Chr19:55151881
| TNNI3 | D196N | Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Dec 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667607
- GRCh38:
- Chr19:55156239
| TNNI3 | P82S | Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive,
Amyloidogenic transthyretin amyloidosis, Cardiomyopathy, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, not specifiednot provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy, ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |