ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.561T>C (p.Tyr187=)

gnomAD frequency: 0.00001  dbSNP: rs749063028
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177418 SCV001341638 likely benign Cardiomyopathy 2018-07-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192740 SCV001361044 likely benign not specified 2019-12-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001192740 SCV001433083 benign not specified 2019-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456097 SCV001659873 likely benign Arrhythmogenic right ventricular dysplasia 11 2022-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346349 SCV004058169 likely benign Cardiovascular phenotype 2023-09-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004006384 SCV004819337 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2024-05-14 criteria provided, single submitter clinical testing

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