ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13281C>G (p.His4427Gln)

dbSNP: rs1396461166
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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 RCV001196353 SCV001366954 uncertain significance Congenital myopathy with fiber type disproportion 2019-10-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.

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