ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31657970)_(31932247_?)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 RCV000630657 SCV000751622 pathogenic Duchenne muscular dystrophy 2021-09-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 46-54 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 individuals with Becker muscular dystrophy (PMID: 14652441). The region of the DMD gene that includes exon(s) 48-53 has been determined to be clinically significant (PMID: 17854090, 18663755, 19907931). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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