Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147353 | SCV000194728 | uncertain significance | Microcephaly, seizures, and developmental delay | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000188408 | SCV000242020 | benign | not specified | 2014-07-21 | 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 | RCV002055923 | SCV002328025 | likely benign | Developmental and epileptic encephalopathy, 12 | 2023-12-19 | criteria provided, single submitter | clinical testing |