ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32501745)_(32501852_?)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 RCV001033303 SCV001196610 pathogenic Duchenne muscular dystrophy 2019-06-17 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 19 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 19 has been reported in several individuals affected with DMD-related muscular dystrophy (PMID: 11381192, 18353051). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.

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