ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.8459G>A (p.Trp2820Ter) (rs886039785)

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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 RCV000256452 SCV000322756 likely pathogenic Duchenne muscular dystrophy 2015-08-10 no assertion criteria provided clinical testing The variant c.8459G>A/p.W2820Ter is not reported in 1000 genome database but found to be disease causing by online software Mutation Taster.

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