ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7581G>A (p.Gln2527=)

dbSNP: rs879254350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448699 SCV001651798 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352810 SCV004057612 likely benign Cardiovascular phenotype 2023-09-06 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.
Color Diagnostics, LLC DBA Color Health RCV003532069 SCV004363508 likely benign Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998937 SCV004821695 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-08-06 criteria provided, single submitter clinical testing

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