ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12471A>G (p.Arg4157=)

gnomAD frequency: 0.00001  dbSNP: rs751897207
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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 RCV003103819 SCV000760723 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773289 SCV000906981 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388058 SCV002674342 likely benign Cardiovascular phenotype 2021-10-06 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 RCV004003884 SCV004818129 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-03-23 criteria provided, single submitter clinical testing

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