ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32438221)_(32849840_?)del

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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 RCV000708190 SCV000837300 pathogenic Duchenne muscular dystrophy 2022-10-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-29 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Duchenne Muscular Dystrophy (PMID: 17680544). This variant disrupts a region of the DMD protein in which other variant(s) (Deletion (Exons 3-13)) have been determined to be pathogenic (PMID: 18974567, 21969337). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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