Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429792 | SCV000514217 | likely benign | not specified | 2016-07-18 | 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 | RCV002524786 | SCV003496173 | likely benign | Developmental and epileptic encephalopathy, 12 | 2022-10-19 | criteria provided, single submitter | clinical testing |