Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444548 | SCV000525488 | likely benign | not specified | 2016-03-23 | 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. |
Athena Diagnostics Inc | RCV000444548 | SCV000613895 | uncertain significance | not specified | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001049872 | SCV001213946 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-02-01 | criteria provided, single submitter | clinical testing |