ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) (rs760443264)

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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 RCV000351237 SCV000333937 uncertain significance not provided 2015-08-17 criteria provided, single submitter clinical testing
Counsyl RCV000665378 SCV000789491 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-02-02 criteria provided, single submitter clinical testing

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