ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2796C>T (p.Asn932=)

gnomAD frequency: 0.00004  dbSNP: rs368981849
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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 RCV000477429 SCV000555747 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188948 SCV001356137 likely benign Cardiomyopathy 2019-07-26 criteria provided, single submitter clinical testing
GeneDx RCV001672780 SCV001887238 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436477 SCV002748324 likely benign Cardiovascular phenotype 2022-07-06 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.

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