Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126485 | SCV000169992 | benign | not specified | 2013-07-24 | 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 | RCV002055652 | SCV002410492 | benign | Benign neonatal seizures | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498616 | SCV002811773 | likely benign | Seizures, benign familial neonatal, 2 | 2022-05-11 | criteria provided, single submitter | clinical testing |