Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528075 | SCV000625792 | pathogenic | Duchenne muscular dystrophy | 2022-10-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 46-48 of the DMD gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). A similar copy number variant has been observed in individual(s) with DMD-related conditions (PMID: 9007319, 9800909, 21851881, 24928015). For these reasons, this variant has been classified as Pathogenic. |