ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.675T>C (p.Val225=)

gnomAD frequency: 0.00002  dbSNP: rs576938518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433942 SCV001636739 likely benign Arrhythmogenic right ventricular dysplasia 10 2022-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368344 SCV002666483 likely benign Cardiovascular phenotype 2021-04-23 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.

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