ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3006G>A (p.Arg1002=)

dbSNP: rs1759317112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187770 SCV001354645 likely benign Cardiomyopathy 2019-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559994 SCV003259861 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994303 SCV005575684 likely benign Cardiovascular phenotype 2024-10-15 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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