ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1464C>T (p.Asn488=)

dbSNP: rs768526275
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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 RCV001184059 SCV001349931 likely benign Cardiomyopathy 2019-09-30 criteria provided, single submitter clinical testing
Invitae RCV002068373 SCV002373117 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393418 SCV002696302 likely benign Cardiovascular phenotype 2022-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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