ClinVar Miner

Submissions for variant NC_000023.10:g.(?_31462588)_(31986641_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809313 SCV000949460 uncertain significance Duchenne muscular dystrophy 2020-02-14 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 45-60 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed in an individual affected with Duchenne muscular dystrophy (PMID:21515508). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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