ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4812G>A (p.Ser1604=)

gnomAD frequency: 0.00001  dbSNP: rs778729982
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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 RCV003115110 SCV003785975 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533810 SCV004363410 likely benign Cardiomyopathy 2022-03-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009572 SCV004829078 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004244593 SCV005022559 likely benign Cardiovascular phenotype 2024-01-22 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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