ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1638T>C (p.Asn546=)

gnomAD frequency: 0.00006  dbSNP: rs145987522
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644649 SCV000766352 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-01-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780209 SCV000917284 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187680 SCV001354546 likely benign Cardiomyopathy 2018-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001637112 SCV001847828 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397244 SCV002704539 likely benign Cardiovascular phenotype 2020-07-16 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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