ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31729621)_(31820093_?)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 RCV001032885 SCV001196192 pathogenic Duchenne muscular dystrophy 2019-12-02 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 50-52 of the DMD gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. A similar gain of exons 50-52 has been observed in an individual affected with Duchenne muscular dystrophy (DMD) (PMID: 1868831, 2316519). 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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