ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys)

dbSNP: rs2096938300
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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 RCV001196814 SCV001367447 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-11-18 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,BP1.

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