ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31773950)_(31968524_?)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 RCV001031415 SCV001194721 pathogenic Duchenne muscular dystrophy 2022-10-16 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 45-51 of the DMD gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with DMD-related conditions (PMID: 2316519, 15643612, 25482253, 31705731). For these reasons, this variant has been classified as Pathogenic.

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