ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32386290)_(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 RCV000529490 SCV000625804 pathogenic Duchenne muscular dystrophy 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the DMD gene that includes exon(s) 3-30 has been determined to be clinically significant (PMID: 7853367, 12920092, 18974567, 19937601, 21969337, 26745801). Therefore, deletions that encompass that region are likely to be disease-causing. A similar copy number variant has been observed in individuals with Duchenne or Becker muscular dystrophy (PMID: 22776072, 23453023). This variant is a gross deletion of the genomic region encompassing exon(s) 3-33 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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