ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32644122)_(32645162_?)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 RCV001032645 SCV001195952 pathogenic Duchenne muscular dystrophy 2019-09-23 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 10-11 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. Similar duplications have been reported in several individuals affected with muscular dystrophy (PMID: 16917894, 18752307, 28181689). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.

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