ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) (rs121908963)

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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 RCV000594920 SCV000701113 pathogenic not provided 2016-02-02 criteria provided, single submitter clinical testing
OMIM RCV000007069 SCV000027265 pathogenic Miyoshi muscular dystrophy 1 2008-03-01 no assertion criteria provided literature only

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