ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2479G>A (p.Glu827Lys)

dbSNP: rs794727323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238462 SCV002009980 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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