Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708225 | SCV000837335 | pathogenic | Duchenne muscular dystrophy | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 48-57 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 individual(s) with Becker muscular dystrophy (PMID: 19602481). The region of the DMD gene that includes exon(s) 48 has been determined to be clinically significant (PMID: 19937601, 21515508, 23453023, 25482253, 26081009, 27854212, 28247318). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |