ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2628T>C (p.Val876=)

gnomAD frequency: 0.00001  dbSNP: rs775842543
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703670 SCV000521352 likely benign not provided 2018-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620180 SCV000737611 likely benign Cardiovascular phenotype 2016-06-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000914677 SCV001059861 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-08-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191141 SCV001358845 likely benign Cardiomyopathy 2019-03-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000346 SCV004821816 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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