ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4389C>T (p.Arg1463=)

gnomAD frequency: 0.00001  dbSNP: rs1391863207
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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 RCV001187610 SCV001354460 likely benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559986 SCV002476470 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163459 SCV003868899 likely benign Cardiovascular phenotype 2022-11-02 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 RCV004008719 SCV004818177 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-01 criteria provided, single submitter clinical testing

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