ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32697860)_(32849830_?)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 RCV001031907 SCV001195214 likely pathogenic Duchenne muscular dystrophy 2019-05-24 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 3-9 of the DMD gene. It preserves the integrity of the reading frame. A similar deletion of exons 3-9 has been reported in male individuals affected with Becker muscular dystrophy and asymptomatic male individuals with elevated creatine kinase (CK) (PMID: 19073314, 24835530, 25482253, Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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