ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3907C>T (p.Arg1303Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004013670 SCV004825104 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-08-15 criteria provided, single submitter clinical testing
GeneDx RCV004775545 SCV005383970 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19926015)

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