ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1116C>G (p.Pro372=)

gnomAD frequency: 0.00001  dbSNP: rs542079618
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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 RCV001190608 SCV001358126 likely benign Cardiomyopathy 2020-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487487 SCV001691975 likely benign Arrhythmogenic right ventricular dysplasia 10 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434099 SCV002745806 likely benign Cardiovascular phenotype 2022-09-02 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 RCV004003005 SCV004819512 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-13 criteria provided, single submitter clinical testing

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