ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14895G>A (p.Gln4965=)

dbSNP: rs770551852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616741 SCV000732074 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531686 SCV003503507 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-05-27 criteria provided, single submitter clinical testing

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