ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2202G>A (p.Gln734=)

gnomAD frequency: 0.00004  dbSNP: rs775922060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243942 SCV000320266 likely benign Cardiovascular phenotype 2015-10-06 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.
GeneDx RCV001705397 SCV000529928 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180366 SCV001345286 likely benign Cardiomyopathy 2018-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001464850 SCV001668825 likely benign Arrhythmogenic right ventricular dysplasia 11 2025-01-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995722 SCV004816086 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-12-13 criteria provided, single submitter clinical testing

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