Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145060 | SCV000192101 | uncertain significance | epileptic encephalopathy, early infanitle, 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000599952 | SCV000725062 | likely benign | not specified | 2017-11-22 | 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. |