ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)

dbSNP: rs1263237391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000770989 SCV000897980 likely pathogenic Central core myopathy 2018-07-06 criteria provided, single submitter clinical testing
GeneDx RCV003328625 SCV004035399 uncertain significance not provided 2023-03-16 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

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