ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)

dbSNP: rs1974036074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198640 SCV001369634 uncertain significance Congenital myopathy with fiber type disproportion 2020-03-13 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,PP3,BS2.
Revvity Omics, Revvity RCV003132260 SCV003814451 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing

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