ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) (rs750028300)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666237 SCV000790495 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763506 SCV000894296 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing

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