Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441450 | SCV000524603 | likely benign | not specified | 2017-04-13 | 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 | RCV002062671 | SCV002406772 | benign | Developmental and epileptic encephalopathy, 36 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002062671 | SCV002524942 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002062671 | SCV002804686 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-10-28 | criteria provided, single submitter | clinical testing |