ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6585T>C (p.His2195=)

gnomAD frequency: 0.00001  dbSNP: rs1759541694
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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 RCV001182132 SCV001347486 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing
Invitae RCV002559015 SCV002943684 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003293937 SCV004007841 likely benign Cardiovascular phenotype 2023-05-21 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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