ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.777C>T (p.Gly259=)

gnomAD frequency: 0.00001  dbSNP: rs565694087
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558886 SCV000645022 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-10-06 criteria provided, single submitter clinical testing
GeneDx RCV001507398 SCV000714395 likely benign not provided 2019-03-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177889 SCV001342188 likely benign Cardiomyopathy 2019-01-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507398 SCV001712934 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413559 SCV002674695 likely benign Cardiovascular phenotype 2020-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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