ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7647C>T (p.Ser2549=)

dbSNP: rs765385403
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178865 SCV001343419 likely benign Cardiomyopathy 2019-02-21 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256836 SCV001433321 likely benign not specified 2020-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459454 SCV001663293 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392737 SCV002670702 likely benign Cardiovascular phenotype 2021-08-31 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 RCV003998939 SCV004824749 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-09-17 criteria provided, single submitter clinical testing

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