Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000614624 | SCV000721177 | likely benign | not specified | 2017-07-17 | 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. |
Labcorp Genetics |
RCV002531543 | SCV003488866 | benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-01-08 | criteria provided, single submitter | clinical testing |