Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031481 | SCV001194787 | pathogenic | Duchenne muscular dystrophy | 2019-11-05 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 10-30 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed in individual(s) with Duchenne or Becker muscular dystrophy (PMID: 21150048, 24292997). The region of the DMD gene that includes exons 10-12 has been determined to be clinically significant (PMID: 19937601, 21815800). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. For these reasons, this variant has been classified as Pathogenic. |