ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)

dbSNP: rs2091951931
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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. RCV001263671 SCV001441763 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2019-12-22 criteria provided, single submitter clinical testing

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