Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031907 | SCV001195214 | likely pathogenic | Duchenne muscular dystrophy | 2019-05-24 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 3-9 of the DMD gene. It preserves the integrity of the reading frame. A similar deletion of exons 3-9 has been reported in male individuals affected with Becker muscular dystrophy and asymptomatic male individuals with elevated creatine kinase (CK) (PMID: 19073314, 24835530, 25482253, Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |