ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6693C>T (p.Ser2231=)

dbSNP: rs1426565026
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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 RCV001526155 SCV001736452 likely benign Cardiomyopathy 2020-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003526074 SCV004304975 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988674 SCV005497058 likely benign Cardiovascular phenotype 2024-10-27 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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