ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7825C>T (p.Leu2609=)

dbSNP: rs767568460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002562342 SCV001379603 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-27 criteria provided, single submitter clinical testing
GeneDx RCV001673037 SCV001885159 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411769 SCV002669634 likely benign Cardiovascular phenotype 2021-11-18 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.
All of Us Research Program, National Institutes of Health RCV004010667 SCV004821511 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-05-04 criteria provided, single submitter clinical testing

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