ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2338dup (p.Val780fs)

dbSNP: rs1967603354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198007 SCV001368792 likely pathogenic Congenital myopathy with fiber type disproportion 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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