Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147606 | SCV000195055 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2013-04-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000862828 | SCV001003385 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000147606 | SCV002056532 | likely benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430711 | SCV004160804 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7 |