ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) (rs121908963)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726614 SCV000701791 pathogenic not provided 2016-11-28 criteria provided, single submitter clinical testing
OMIM RCV000007068 SCV000027264 pathogenic Limb-girdle muscular dystrophy, type 2B 2008-03-01 no assertion criteria provided literature only
Counsyl RCV000007068 SCV000798802 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2018-03-30 no assertion criteria provided clinical testing

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