ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32545159)_(32849820_?)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 RCV000456166 SCV000563946 pathogenic Duchenne muscular dystrophy 2016-04-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-17 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in DMD are known to be pathogenic. This gross deletion has been reported in the literature in individuals affected with a DMD-related disease (PMID: 14977063, 16030524). For these reasons, this variant has been classified as Pathogenic.

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