Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816615 | SCV000957132 | pathogenic | Duchenne muscular dystrophy | 2022-03-08 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3-20 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with DMD-related muscular dystrophy (PMID: 15723292, 25482253). The region of the DMD gene that includes exon(s) 13 has been determined to be clinically significant (PMID: 15684864, 28116794, 28610567). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |