Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV001270626 | SCV001450925 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2020-02-07 | no assertion criteria provided | clinical testing | This mosaic deletion was present in 24% of reads in a male patient. |