ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31657970)_(31968534_?)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 RCV000794822 SCV000934254 pathogenic Duchenne muscular dystrophy 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individuals with a DMD-related muscular dystrophy (PMID: 9800909, 11257468, 15723292, 22090376, 26911353). This variant is a gross deletion of the genomic region encompassing exon(s) 45-54 of the DMD gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).

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