ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.157C>T (p.Leu53=)

dbSNP: rs763981651
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000284854 SCV000414765 uncertain significance Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339880 SCV000414766 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380497 SCV000414767 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288732 SCV000414768 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178095 SCV001342437 likely benign Cardiomyopathy 2018-12-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000288732 SCV002438856 likely benign Hypertrophic cardiomyopathy 2022-02-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000288732 SCV004821886 likely benign Hypertrophic cardiomyopathy 2023-06-26 criteria provided, single submitter clinical testing

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