ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1493+2dup (rs753885022)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656701 SCV000747733 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-18 no assertion criteria provided clinical testing The observed variant c.1397+2dupT is not reported in 1000 Genomes and its minor allele frequency is <0.01% in ExAC databases. The in silico predictions of the variant is disease causing by MutationTaster2.

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