ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu)

gnomAD frequency: 0.00001  dbSNP: rs1323584158
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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 RCV001196097 SCV001366567 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-03-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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