ClinVar Miner

Submissions for variant NC_000023.10:g.(?_32827610)_(33038317_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463343 SCV000563964 pathogenic Duchenne muscular dystrophy 2016-12-24 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-7 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Duplications encompassing the same exons have been reported in the literature in individuals affected with muscular dystrophy (PMID: 2063877, 18752307, 26911353, 16917894, 8034300). Additionally, a similar duplication was reported to segregate with disease in a family affected with Becker muscular dystrophy (PMID: 2316519) and in a family affected with cardiomyopathy (PMID: 9441825). For these reasons, this variant has been classified as Pathogenic.

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