Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606446 | SCV000727522 | likely benign | not specified | 2018-02-18 | 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. |
Invitae | RCV001454161 | SCV001657874 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-07-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270851 | SCV002553651 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270852 | SCV002553652 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing |