ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.897C>T (p.Ser299=)

gnomAD frequency: 0.00011  dbSNP: rs121912992
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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 RCV001517456 SCV001725952 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372057 SCV002683690 likely benign Cardiovascular phenotype 2020-07-16 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.
Color Diagnostics, LLC DBA Color Health RCV003532004 SCV004363283 likely benign Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995633 SCV004829962 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-11-20 criteria provided, single submitter clinical testing

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