ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31627673)_(31658144_?)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 RCV000466292 SCV000563953 likely pathogenic Duchenne muscular dystrophy 2016-09-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 54-55 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a DMD-related disease, but it has been reported in one affected individual in the Leiden Open-source Variation Database (PMID: 21520333). In addition, similar in-frame deletions in the same region have been reported in individuals with DMD-related muscular dystrophy (PMID: 9628192, 19937601, 19367636). For these reasons, this variant has been classified as Likely Pathogenic.

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