Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421386 | SCV000514510 | benign | not specified | 2015-06-16 | 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. |
Genetic Services Laboratory, |
RCV000421386 | SCV000596959 | uncertain significance | not specified | 2016-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001518938 | SCV001727718 | benign | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2023-10-16 | criteria provided, single submitter | clinical testing |