ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)

dbSNP: rs1973350586
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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 RCV001197605 SCV001368384 uncertain significance Congenital myopathy with fiber type disproportion 2019-01-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3.

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