ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32448446)_(32565891_?)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 RCV001032588 SCV001195895 uncertain significance Duchenne muscular dystrophy 2019-09-04 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 16-27 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). This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number gain of exons 16-27 has been observed in an individual affected with Becker muscular dystrophy (PMID: 22776072). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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