| - GRCh37:
- Chr19:55665492
- GRCh38:
- Chr19:55154124
| TNNI3 | D152G | Hypertrophic cardiomyopathy 7 | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - 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:
- Chr19:55667645
- GRCh38:
- Chr19:55156277
| TNNI3 | R69H | Hypertrophic cardiomyopathy 7 | Uncertain significance
(Jun 16, 2020) | no assertion criteria provided |
| - 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:
- Chr19:55667634
- GRCh38:
- Chr19:55156266
| TNNI3 | G73R | Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Uncertain significance
(Nov 8, 2021) | 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 | Primary ciliary dyskinesia, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A | 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:
- Chr18:34261506
- GRCh38:
- Chr18:36681543
| FHOD3 | I473T, I648T | Hypertrophic cardiomyopathy 7 | Uncertain significance
(Jan 23, 2020) | criteria provided, single submitter |
| - 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:
- Chr19:55666134
- GRCh38:
- Chr19:55154766
| TNNI3 | A116G | Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Uncertain significance
(Nov 4, 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 | | not provided, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55668416
- GRCh38:
- Chr19:55157048
| TNNI3 | | not provided, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7 | Uncertain significance
(Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55666207
- GRCh38:
- Chr19:55154839
| TNNI3 | | Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Cardiomyopathy, Hypertrophic cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
| Conflicting interpretations of pathogenicity
(Sep 12, 2022) | 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:
- Chr19:55667630
- 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 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified, Primary ciliary dyskinesia,
not provided, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7 | 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 | | Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not provided, Cardiomyopathy
| Conflicting interpretations of pathogenicity
(Feb 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:
- Chr19:55663239
- GRCh38:
- Chr19:55151871
| TNNI3 | S199N | Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy,
not provided | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55665526
- GRCh38:
- Chr19:55154158
| TNNI3 | R141W | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Feb 23, 2023) | 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:
- Chr19:55665540
- GRCh38:
- Chr19:55154172
| TNNI3 | R136Q | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55666189
- GRCh38:
- Chr19:55154821
| TNNI3 | R98* | Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, not provided,
Cardiomyopathy, Cardiovascular phenotype | Uncertain significance
(Dec 30, 2022) | 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:
- Chr19:55665450
- GRCh38:
- Chr19:55154082
| TNNI3 | S166F | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr19:55667593
- GRCh38:
- Chr19:55156225
| TNNI3 | L88fs | Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy,
not specified | Conflicting interpretations of pathogenicity
(Sep 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55666102
- GRCh38:
- Chr19:55154734
| TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55665439
- GRCh38:
- Chr19:55154071
| TNNI3 | R170G | not specified, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55663261
- GRCh38:
- Chr19:55151893
| TNNI3 | R192C | not provided, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, Restrictive cardiomyopathy,
Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665463
- GRCh38:
- Chr19:55154095
| TNNI3 | R162W | Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Cardiomyopathy,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7, not provided, 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, Primary ciliary dyskinesia, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, 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:
- Chr19:55663278
- GRCh38:
- Chr19:55151910
| TNNI3 | R186Q | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Sep 29, 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,
Primary ciliary dyskinesia, Cardiomyopathy, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55665462
- GRCh38:
- Chr19:55154094
| TNNI3 | R162P | Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665462
- GRCh38:
- Chr19:55154094
| TNNI3 | R162Q | Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided,
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy ...see more | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665477
- GRCh38:
- Chr19:55154109
| TNNI3 | A157V | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Oct 31, 2022) | 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, Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic
(Aug 9, 2022) | 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, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 2A, 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 2A,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, not specified,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy ...see more | Uncertain significance
(Nov 25, 2022) | 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, not specified,
Familial restrictive cardiomyopathy, Primary ciliary dyskinesia, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55667616
- GRCh38:
- Chr19:55156248
| TNNI3 | R79C | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiovascular phenotype, not specified,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, 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, Primary ciliary dyskinesia, Cardiomyopathy,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55667653
- GRCh38:
- Chr19:55156285
| TNNI3 | | Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiovascular phenotype,
not specified, Familial restrictive cardiomyopathy, not provided,
Cardiomyopathy, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, 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 provided, not specified,
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
| DNAAF3, TNNI3 | | Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial restrictive cardiomyopathy,
not specified, Primary ciliary dyskinesia, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
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,
Primary ciliary dyskinesia, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55668465
- GRCh38:
- Chr19:55157097
| TNNI3 | R21C | Cardiovascular phenotype, Hypertrophic cardiomyopathy | Pathogenic
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55665398-55665400
- GRCh38:
- Chr19:55154030-55154032
| TNNI3 | K183del | Hypertrophic cardiomyopathy 7 | Pathogenic
(Aug 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr19:55663228
- GRCh38:
- Chr19:55151860
| TNNI3 | G203S | Hypertrophic cardiomyopathy 7 | Pathogenic
(Aug 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr19:55665415
- GRCh38:
- Chr19:55154047
| TNNI3 | K178E | Hypertrophic cardiomyopathy 7 | Pathogenic
(Mar 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:55663266
- GRCh38:
- Chr19:55151898
| TNNI3 | D190G | Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7 | Pathogenic
(Jan 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr19:55663249
- GRCh38:
- Chr19:55151881
| TNNI3 | D196N | Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, 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 | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Cardiovascular phenotype,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, Cardiomyopathy, Amyloidogenic transthyretin amyloidosis,
Familial restrictive cardiomyopathy, not providednot specified,
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 |
| - GRCh37:
- Chr19:55663219
- GRCh38:
- Chr19:55151851
| TNNI3 | K206Q | Hypertrophic cardiomyopathy 7 | Pathogenic
(Aug 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr19:55665514
- GRCh38:
- Chr19:55154146
| TNNI3 | R145G | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy | Pathogenic
(Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |