Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827932 | SCV000969603 | likely benign | not provided | 2018-05-18 | 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. |
Centre for Mendelian Genomics, |
RCV001197851 | SCV001368631 | uncertain significance | Developmental and epileptic encephalopathy, 7 | 2018-12-04 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4. |
Invitae | RCV001470616 | SCV001674712 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-01-19 | criteria provided, single submitter | clinical testing |