ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2568A>G (p.Thr856=)

dbSNP: rs1986693059
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177760 SCV001342025 likely benign Cardiomyopathy 2019-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068207 SCV002401006 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-03-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006409 SCV004816043 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033012 SCV005028719 likely benign Cardiovascular phenotype 2023-10-26 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.

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