ClinVar Miner

Submissions for variant NC_000023.10:g.(?_32862900)_(32867937_?)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 RCV000461426 SCV000563955 pathogenic Duchenne muscular dystrophy 2016-11-26 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 3-4 of the DMD gene. This leads to an in-frame duplication, which occurs in tandem, therefore preserving the integrity of the reading frame. Gross duplications of the DMD gene are known to be pathogenic. Similar duplications have been reported in many (>10) individuals affected with Duchenne or Becker muscular dystrophy (PMID: 2316519, 12111668, 16917894, 18752307, 21896784). For these reasons, this variant has been classified as Pathogenic.

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