Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189588 | SCV000243231 | benign | not specified | 2014-12-02 | 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 | RCV000227536 | SCV000287898 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002054236 | SCV002498047 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | STXBP1: BP4, BP7 |