ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31609584)_(31968514_?)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 RCV000708093 SCV000837203 pathogenic Duchenne muscular dystrophy 2018-03-29 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 45-55 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in several individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 11257468, 26911353, 18752307, 20683981, 16030524) and in individuals affected with dilated cardiomyopathy (PMID: 18261911). For these reasons, this variant has been classified as Pathogenic.

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