ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)

dbSNP: rs2093464314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263968 SCV001442066 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2020-02-19 criteria provided, single submitter clinical testing

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