ClinVar Miner

Submissions for variant GRCh37/hg19 Xp21.1(chrX:32578319-32620638)x3

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001537896 SCV001754824 pathogenic not provided 2019-04-25 criteria provided, single submitter clinical testing This CNV is an inherited 42 kb duplication of Xp21.1 on chromosome X, (seq[GRCh37]dup(X)(p21.1); chrX:g.32578319_32620638dup). This CNV constitutes a gain encompassing exons 13-16 of the DMD gene. These exons code for spectrin domains. Exon duplications in DMD contribute to 13-14% of Duchenne muscular dystrophy cases (Taylor et al. 2007; Magri et al. 2011) and have also been shown to affect women with carrier status (Zhong et al. 2019). Based on the collective evidence, this CNV is classified as pathogenic.

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