ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1267_1276+4dup

dbSNP: rs1573744795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594474 SCV000701419 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003338675 SCV004047172 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The splice region variant c.1267_1276+4dup in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The observed variant is submitted to ClinVar database as Pathogenic / Likely pathogenic but no details are provided for individual assessment. For these reasons, this variant has been classified as Uncertain Significance.

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