ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6699C>T (p.Val2233=)

gnomAD frequency: 0.00001  dbSNP: rs767835744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179169 SCV001343780 likely benign Cardiomyopathy 2018-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001540243 SCV001758104 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365849 SCV002663556 likely benign Cardiovascular phenotype 2022-03-21 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.
Invitae RCV003769939 SCV004571276 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-04 criteria provided, single submitter clinical testing

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