ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1848G>T (p.Ala616=)

dbSNP: rs372349945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642345 SCV000764014 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-10-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805773 SCV002052957 likely benign Cardiomyopathy 2021-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406394 SCV002711490 likely benign Cardiovascular phenotype 2018-11-26 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.
All of Us Research Program, National Institutes of Health RCV004003983 SCV004819580 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-10-27 criteria provided, single submitter clinical testing

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