ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9492T>G (p.Gly3164=)

gnomAD frequency: 0.00001  dbSNP: rs1252667379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002555096 SCV001617621 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365383 SCV004054091 likely benign Cardiovascular phenotype 2023-08-01 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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