ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6654C>T (p.Thr2218=)

gnomAD frequency: 0.00006  dbSNP: rs727503005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180341 SCV001345250 likely benign Cardiomyopathy 2019-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001433572 SCV001636363 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360571 SCV002663261 likely benign Cardiovascular phenotype 2020-09-30 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 RCV004003947 SCV004833007 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-02-05 criteria provided, single submitter clinical testing

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