ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2310A>C (p.Val770=)

gnomAD frequency: 0.00003  dbSNP: rs762909119
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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 RCV001185174 SCV001351329 likely benign Cardiomyopathy 2019-11-06 criteria provided, single submitter clinical testing
Invitae RCV002068406 SCV002330753 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003363142 SCV004079927 likely benign Cardiovascular phenotype 2023-06-17 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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