ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter) (rs1573138313)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University of Wuerzburg RCV000850339 SCV000992515 likely pathogenic Distal lower limb muscle weakness no assertion criteria provided clinical testing

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