ClinVar Miner

Submissions for variant NC_000023.10:g.(?_31366653)_(31747885_?)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 RCV000630647 SCV000751612 pathogenic Duchenne muscular dystrophy 2021-08-12 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 52-61 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 out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). A similar copy number variant has been observed in individual(s) with clinical features of DMD-related conditions (PMID: 29604111). For these reasons, this variant has been classified as Pathogenic.

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