ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7524T>C (p.Ser2508=)

dbSNP: rs2148796054
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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 RCV001524646 SCV001734577 likely benign Cardiomyopathy 2020-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568068 SCV003440947 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-05-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008777 SCV004814402 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037965 SCV005037172 likely benign Cardiovascular phenotype 2023-10-15 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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