Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000298205 | SCV000467297 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000334487 | SCV000467298 | uncertain significance | Pitt-Hopkins-like syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000298205 | SCV002419338 | likely benign | Cortical dysplasia-focal epilepsy syndrome | 2023-10-28 | criteria provided, single submitter | clinical testing |