ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met)

dbSNP: rs1404000468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671205 SCV000796157 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-04 criteria provided, single submitter clinical testing

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