ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32287509)_(32287721_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530715 SCV000625801 pathogenic Duchenne muscular dystrophy 2017-05-01 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 43 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic. A similar copy number variant has been reported in the literature in multiple individuals affected with DMD-related muscular dystrophy (PMID: 18353051,  11381192, 18752307). For these reasons, this variant has been classified as Pathogenic.

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