ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32595757)_(32849820_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466123 SCV000563947 pathogenic Duchenne muscular dystrophy 2016-08-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-13 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. In-frame exonic deletions in DMD are typically pathogenic (PMID: 20485447). This particular deletion has been reported in the literature in affected individuals with Duchenne and Becker muscular dystrophy (PMID: 18974567, 21969337, 7853367). For these reasons, this variant has been classified as Pathogenic.

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