ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1836C>T (p.Pro612=)

gnomAD frequency: 0.00001  dbSNP: rs374288967
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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 RCV001190109 SCV001357525 likely benign Cardiomyopathy 2019-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001432209 SCV001634973 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411716 SCV002716333 likely benign Cardiovascular phenotype 2020-01-28 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 RCV004010411 SCV004819576 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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