Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002090856 | SCV002379337 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-05-18 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV002290848 | SCV002579759 | uncertain significance | Developmental and epileptic encephalopathy, 2 | 2021-12-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438938 | SCV004166650 | uncertain significance | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CDKL5: PM2 |