ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5880C>T (p.Thr1960=)

gnomAD frequency: 0.00002  dbSNP: rs375883982
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870414 SCV001011911 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176318 SCV001340241 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824900 SCV002074185 likely benign not specified 2022-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352573 SCV002651815 likely benign Cardiovascular phenotype 2020-10-06 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.
All of Us Research Program, National Institutes of Health RCV004003062 SCV004815921 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-01-03 criteria provided, single submitter clinical testing

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