ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) (rs121908957)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007058 SCV000027254 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2000-12-26 no assertion criteria provided literature only
OMIM RCV000681612 SCV000809054 pathogenic Miyoshi muscular dystrophy 1 2000-12-26 no assertion criteria provided literature only

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