ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32472144)_(32651077_?)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 RCV000801985 SCV000941791 pathogenic Duchenne muscular dystrophy 2018-08-24 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 10-22 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed an individual affected with Becker muscular dystrophy (PMID: 23667215, 24292997). Sub-genic deletion of exon 13 has been determined to be pathogenic (PMID: 15684864, 28116794, 28610567). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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