ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu)

dbSNP: rs764566778
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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 RCV001195800 SCV001366220 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-04-02 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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