ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1573138313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461294 SCV004196537 likely pathogenic Miyoshi muscular dystrophy 1 2024-02-06 criteria provided, single submitter clinical testing
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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