ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14896C>T (p.Leu4966=)

gnomAD frequency: 0.00002  dbSNP: rs368031082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840322 SCV000982247 likely benign not provided 2018-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538291 SCV001647324 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390724 SCV002700874 likely benign Cardiovascular phenotype 2019-09-20 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489934 SCV004241032 likely benign not specified 2023-12-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002889 SCV004837622 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-11-30 criteria provided, single submitter clinical testing

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