ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) (rs1024524968)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diseases Diagnostic Center,Koc University Hospital RCV000786071 SCV000864404 likely pathogenic Miyoshi muscular dystrophy 1 2018-12-18 no assertion criteria provided clinical testing

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