ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) (rs121908953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000301362 SCV000334403 pathogenic not provided 2015-08-17 criteria provided, single submitter clinical testing
OMIM RCV000007047 SCV000027243 pathogenic Miyoshi muscular dystrophy 1 1998-09-01 no assertion criteria provided literature only

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