ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31819965)_(31929755_?)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 RCV000813350 SCV000953708 pathogenic Duchenne muscular dystrophy 2018-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has been observed in several individuals and families affected with DMD-related dystrophinopathies (PMID: 23829870, 26081009, 1889805, 9007319). This variant is an out-of-frame deletion of the genomic region encompassing exons 47-50 of the DMD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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