ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2244C>T (p.Asp748=)

gnomAD frequency: 0.00001  dbSNP: rs886039103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241862 SCV000320051 likely benign Cardiovascular phenotype 2015-08-05 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.
Invitae RCV000869448 SCV001010876 likely benign Arrhythmogenic right ventricular dysplasia 11 2021-06-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190243 SCV001357693 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995718 SCV004816080 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-08-15 criteria provided, single submitter clinical testing

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