ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.648T>C (p.Asp216=)

gnomAD frequency: 0.00001  dbSNP: rs1235715453
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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 RCV001181913 SCV001347158 likely benign Cardiomyopathy 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001426903 SCV001629564 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356842 SCV002656083 likely benign Cardiovascular phenotype 2019-11-01 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 RCV004006765 SCV004819460 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-09-04 criteria provided, single submitter clinical testing

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