ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14850A>G (p.Glu4950=)

gnomAD frequency: 0.00001  dbSNP: rs947052066
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190934 SCV001358577 likely benign Cardiomyopathy 2019-07-26 criteria provided, single submitter clinical testing
Invitae RCV003525967 SCV001600979 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390796 SCV002700833 likely benign Cardiovascular phenotype 2022-04-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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