ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31929590)_(31968520_?)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 RCV000819209 SCV000959856 pathogenic Duchenne muscular dystrophy 2018-09-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 45-47 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Gross deletions in the DMD gene are known to be pathogenic. Similar deletions involving exons 45-47 have been reported in multiple individuals affected with Becker muscular dystrophy (PMID: 11257468, 2063877, 19449031, 18752307, 16566881, 22090376) and in individuals affected with dilated cardiomyopathy (PMID: 21851881). For these reasons, this variant has been classified as Pathogenic.

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