ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31879410)_(31932237_?)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 RCV001032581 SCV001195888 pathogenic Duchenne muscular dystrophy 2019-11-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 46-47 of the DMD gene. This out-of-frame deletion 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. This particular variant has been reported in the literature in many individuals affected with Duchenne muscular dystrophy (PMID: 22090376, 18752307, 15723292, 9800909, 18683213, 20944443, 24217213). For these reasons, this variant has been classified as Pathogenic.

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