ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1977T>C (p.Ser659=)

dbSNP: rs770010850
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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 RCV000926646 SCV001072209 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416155 SCV002721671 likely benign Cardiovascular phenotype 2020-11-08 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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