ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9550G>A (p.Glu3184Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003328001 SCV004034816 uncertain significance not provided 2023-03-06 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: 12668474)
All of Us Research Program, National Institutes of Health RCV004804598 SCV005425203 uncertain significance Malignant hyperthermia, susceptibility to, 1 2024-05-09 criteria provided, single submitter clinical testing

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