ClinVar Miner

Submissions for variant GRCh37/hg19 Xp21.1(chrX:31959958-31987608)x0

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003485149 SCV004231075 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing This copy number loss of Xp21.1 involves one exon (exon 45; NM_004006.3) of the DMD gene (OMIM 300377). Pathogenic sequence and copy number variants in DMD are associated with a spectrum of muscle diseases known as the dystrophinopathies; Duchenne Muscular Dystrophy (DMD; OMIM 310200), Becker Muscular Dystrophy (BMD; OMIM 300376), and dilated cardiomyopathy 3B (CMD3B; OMIM 302045). Reference: Darras et al. Dystrophinopathies. 2000 Sep 5 [Updated 2022 Jan 20]. GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1119).

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