Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033065 | SCV001196372 | pathogenic | Duchenne muscular dystrophy | 2019-09-26 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 48-49. It preserves the integrity of the reading frame. This variant has been reported in the hemizygous state in multiple individuals affected Becker muscular dystrophy (BMD) (PMID: 15841391, 2063877) and X-linked dilated cardiomyopathy (DCM) (PMID: 21851881). For these reasons, this variant has been classified as Pathogenic. |