ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1307_1332-7556del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808175 SCV000948270 pathogenic Duchenne muscular dystrophy 2018-09-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 11 (c.1307_1332-7556del) of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Disruption of the exon 11 splice donor site has been observed in several individuals affected with DMD-related muscular dystrophy (PMID: 17041906, 17259292, 19959795). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.

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