ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31496788)_(31875373_?)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 RCV000474616 SCV000563951 pathogenic Duchenne muscular dystrophy 2016-05-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 48-57 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This deletion has been reported in an individual affected with Becker muscular dystrophy. In addition, other in-frame deletions in the same region of the DMD gene have been reported in affected individuals (PMID: 10841222, 15841391 , 19907931, 25614876). For these reasons, this variant has been classified as Pathogenic.

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