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Items: 52

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:55667631
GRCh38:
Chr19:55156263
TNNI3R74CDilated 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
2.
GRCh37:
Chr19:55663215
GRCh38:
Chr19:55151847
TNNI3K207RHypertrophic 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
3.
GRCh37:
Chr19:55665481
GRCh38:
Chr19:55154113
TNNI3Q156EFamilial 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
4.
GRCh37:
Chr19:55673190
GRCh38:
Chr19:55161822
DNAAF3, DNAAF3-AS1, TNNI3R108S, R162S, R209S, R230SFamilial 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
5.
GRCh37:
Chr19:55672066
GRCh38:
Chr19:55160698
DNAAF3, DNAAF3-AS1, TNNI3Familial 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
6.
GRCh37:
Chr19:55668422
GRCh38:
Chr19:55157054
TNNI3A35DFamilial 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
7.
GRCh37:
Chr19:55663158
GRCh38:
Chr19:55151790
TNNI3Familial 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
8.
GRCh37:
Chr19:55669002
GRCh38:
Chr19:55157634
TNNI3Familial 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
9.
GRCh37:
Chr19:55668434
GRCh38:
Chr19:55157066
TNNI3T31MCardiomyopathy, 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
10.
GRCh37:
Chr19:55668422
GRCh38:
Chr19:55157054
TNNI3A35VCardiomyopathy, 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
11.
GRCh37:
Chr19:55668006-55668007
GRCh38:
Chr19:55156638-55156639
TNNI3S39fsHypertrophic 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
12.
GRCh37:
Chr19:55665590
GRCh38:
Chr19:55154222
TNNI3Hypertrophic 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
13.
GRCh37:
Chr19:55668416
GRCh38:
Chr19:55157048
TNNI3not 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
14.
GRCh37:
Chr19:55666207
GRCh38:
Chr19:55154839
TNNI3not 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
15.
GRCh37:
Chr19:55663296
GRCh38:
Chr19:55151928
TNNI3Cardiomyopathy, 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
16.
GRCh37:
Chr19:55667978
GRCh38:
Chr19:55156610
TNNI3Q48PCardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr19:55667630
GRCh38:
Chr19:55156262
TNNI3R74Pnot 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
18.
GRCh37:
Chr19:55670808
GRCh38:
Chr19:55159440
DNAAF3, DNAAF3-AS1, TNNI3Dilated 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
19.
GRCh37:
Chr19:55668027
GRCh38:
Chr19:55156659
TNNI3Familial 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
20.
GRCh37:
Chr19:55663167
GRCh38:
Chr19:55151799
TNNI3Familial 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
21.
GRCh37:
Chr19:55665508
GRCh38:
Chr19:55154140
TNNI3V147LCardiomyopathy, 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
22.
GRCh37:
Chr19:55669004
GRCh38:
Chr19:55157636
TNNI3not 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
23.
GRCh37:
Chr19:55669055
GRCh38:
Chr19:55157687
TNNI3Familial 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
24.
GRCh37:
Chr19:55666125
GRCh38:
Chr19:55154757
TNNI3T119ICardiomyopathy, 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
25.
GRCh37:
Chr19:55666189
GRCh38:
Chr19:55154821
TNNI3R98*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
26.
GRCh37:
Chr19:55667989
GRCh38:
Chr19:55156621
TNNI3Cardiovascular 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
27.
GRCh37:
Chr19:55667647
GRCh38:
Chr19:55156279
TNNI3R69fsPrimary 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
28.
GRCh37:
Chr19:55667684
GRCh38:
Chr19:55156316
TNNI3I56TCardiovascular 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
29.
GRCh37:
Chr19:55666102
GRCh38:
Chr19:55154734
TNNI3Hypertrophic 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
30.
GRCh37:
Chr19:55663261
GRCh38:
Chr19:55151893
TNNI3R192CDilated 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
31.
GRCh37:
Chr19:55665463
GRCh38:
Chr19:55154095
TNNI3R162WDilated 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
32.
GRCh37:
Chr19:55668992
GRCh38:
Chr19:55157624
DNAAF3, TNNI3Familial 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
33.
GRCh37:
Chr19:55667982
GRCh38:
Chr19:55156614
TNNI3Cardiovascular 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
34.
GRCh37:
Chr19:55668029
GRCh38:
Chr19:55156661
TNNI3not 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
35.
GRCh37:
Chr19:55668953
GRCh38:
Chr19:55157585
TNNI3A2Vnot specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr19:55665410
GRCh38:
Chr19:55154042
DNAAF3, TNNI3Cardiovascular 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
37.
GRCh37:
Chr19:55665462
GRCh38:
Chr19:55154094
TNNI3R162QCardiovascular 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
38.
GRCh37:
Chr19:55665513
GRCh38:
Chr19:55154145
TNNI3R145QCardiovascular 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
39.
GRCh37:
Chr19:55665525
GRCh38:
Chr19:55154157
TNNI3R141QCardiovascular 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
40.
GRCh37:
Chr19:55665578
GRCh38:
Chr19:55154210
TNNI3Familial 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
41.
GRCh37:
Chr19:55665589
GRCh38:
Chr19:55154221
TNNI3Familial 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
42.
GRCh37:
Chr19:55666125
GRCh38:
Chr19:55154757
TNNI3T119NCardiovascular 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
43.
GRCh37:
Chr19:55667578
GRCh38:
Chr19:55156210
TNNI3Cardiovascular 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
44.
GRCh37:
Chr19:55668509
GRCh38:
Chr19:55157141
DNAAF3, TNNI3Familial 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
45.
GRCh37:
Chr19:55667616
GRCh38:
Chr19:55156248
TNNI3R79CCardiovascular 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
46.
GRCh37:
Chr19:55667647
GRCh38:
Chr19:55156279
DNAAF3, TNNI3Familial 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
47.
GRCh37:
Chr19:55667653
GRCh38:
Chr19:55156285
TNNI3Cardiovascular 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
48.
GRCh37:
Chr19:55667706
GRCh38:
Chr19:55156338
TNNI3Familial 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
49.
GRCh37:
Chr19:55667958
GRCh38:
Chr19:55156590
TNNI3, DNAAF3Dilated 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
50.
GRCh37:
Chr19:55665584
GRCh38:
Chr19:55154216
DNAAF3, TNNI3, TNNT1Familial 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
51.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196NCardiovascular 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
52.
GRCh37:
Chr19:55667607
GRCh38:
Chr19:55156239
TNNI3P82SCardiovascular 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
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