ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32362768)_(32365219_?)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 RCV000630669 SCV000751634 likely pathogenic Duchenne muscular dystrophy 2022-07-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 35-37 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 DMD-related conditions (PMID: 1785409, 22234188). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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