Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421510 | SCV000515556 | likely benign | not specified | 2016-09-06 | 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 | RCV001465874 | SCV001669871 | likely benign | Cortical dysplasia-focal epilepsy syndrome | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001465874 | SCV003831102 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2022-07-21 | criteria provided, single submitter | clinical testing |