ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1652G>A (p.Trp551Ter) (rs1569230215)

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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 RCV000727959 SCV000855475 pathogenic not provided 2017-07-07 criteria provided, single submitter clinical testing
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000755045 SCV000882768 pathogenic Duchenne muscular dystrophy 2019-02-11 no assertion criteria provided research

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