Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034491 | SCV001197848 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-04-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332876 | SCV001525315 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2019-09-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV001332876 | SCV002056606 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |