ClinVar Miner

Submissions for variant NC_000023.10:g.(?_31222068)_(31854946_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972660 SCV002240876 pathogenic Duchenne muscular dystrophy 2020-11-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the DMD gene that includes exon(s) 49 has been determined to be clinically significant (PMID: 27854212, 26081009, 28610567). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 49-67 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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