ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9585C>T (p.Leu3195=)

gnomAD frequency: 0.00002  dbSNP: rs747861813
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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 RCV001189029 SCV001356223 likely benign Cardiomyopathy 2019-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560036 SCV002454619 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379729 SCV002695647 likely benign Cardiovascular phenotype 2022-04-19 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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