ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.9563+1G>A (rs886043989)

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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 RCV000726209 SCV000342921 pathogenic not provided 2016-07-08 criteria provided, single submitter clinical testing
Invitae RCV000274126 SCV000625989 pathogenic Duchenne muscular dystrophy 2018-09-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 65 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with DMD-related muscular dystrophy (PMID: 8281150, 20485447, 23536893, 27593222). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000274126 SCV000882777 pathogenic Duchenne muscular dystrophy 2019-02-11 no assertion criteria provided research

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