ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32501745)_(32501852_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031758 SCV001195064 likely pathogenic Duchenne muscular dystrophy 2021-08-04 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 19 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 Duchenne muscular dystrophy (PMID: 17259292). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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