ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.101dup (p.Tyr34Ter)

dbSNP: rs1569552079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000755015 SCV000882748 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2019-02-11 no assertion criteria provided research

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