Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147634 | SCV000195083 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2012-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000189467 | SCV000243108 | benign | not specified | 2014-07-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genome- |
RCV000147634 | SCV002056594 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055933 | SCV002382914 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2020-11-06 | criteria provided, single submitter | clinical testing |