Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187429 | SCV000241018 | benign | not specified | 2014-07-22 | 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. |
Labcorp Genetics |
RCV002054200 | SCV002421885 | likely benign | Rett syndrome, congenital variant | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292483 | SCV002585466 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | FOXG1: BP4, BP7 |