ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31679355)_(31875393_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556187 SCV000625780 pathogenic Duchenne muscular dystrophy 2017-03-14 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 48-53 of the DMD gene. It preserves the integrity of the reading frame. Deletion of exons 48-53 has been reported in individuals affected with Duchenne or Becker muscular dystrophy (PMID: 19907931, 18663755, 17854090) and an individual affected with dilated cardiomyopathy without muscular dystrophy (PMID: 10841222). For these reasons, this variant has been classified as Pathogenic.

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