Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000614914 | SCV000719065 | likely benign | not specified | 2017-05-02 | 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. |
Ce |
RCV000997806 | SCV001153524 | likely benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001395255 | SCV001596959 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-27 | criteria provided, single submitter | clinical testing |