ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)

gnomAD frequency: 0.00003  dbSNP: rs755481878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056791 SCV001221255 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-03-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191126 SCV001358827 likely benign Cardiomyopathy 2020-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445299 SCV002612568 likely benign Cardiovascular phenotype 2022-03-23 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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