ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.96A>G (p.Gln32=)

dbSNP: rs1057524453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417952 SCV000535607 likely benign not specified 2017-01-05 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.
All of Us Research Program, National Institutes of Health RCV004000575 SCV004832654 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-06-26 criteria provided, single submitter clinical testing

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