Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692935 | SCV000820786 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558002 | SCV001779863 | likely benign | not provided | 2019-04-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28492532) |
Genome- |
RCV001809755 | SCV002056683 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |