ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6921C>T (p.Asn2307=)

gnomAD frequency: 0.00001  dbSNP: rs775897238
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398293 SCV001600061 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524058 SCV001733819 likely benign Cardiomyopathy 2020-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004616718 SCV005117174 likely benign Cardiovascular phenotype 2024-03-16 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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