ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.94_264dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495858 SCV000583508 likely pathogenic Duchenne muscular dystrophy 2017-04-17 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genome and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2.

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