ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32411742)_(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 RCV001031481 SCV001194787 pathogenic Duchenne muscular dystrophy 2019-11-05 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 10-30 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed in individual(s) with Duchenne or Becker muscular dystrophy (PMID: 21150048, 24292997). The region of the DMD gene that includes exons 10-12 has been determined to be clinically significant (PMID: 19937601, 21815800). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. For these reasons, this variant has been classified as Pathogenic.

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