ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.730del (p.Leu244fs)

dbSNP: rs1553521119
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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 RCV000627074 SCV000747734 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-18 no assertion criteria provided clinical testing The observed variant c.634delC (p. Leu212CysfsTer15) is not reported in 1000 Genomes and ExAc databases. The in silico prediction of the variant is disease causing by MutationTaster2.

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