Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434828 | SCV000525401 | likely benign | not specified | 2016-03-07 | 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. |
Fulgent Genetics, |
RCV005018730 | SCV005644158 | uncertain significance | Koolen-de Vries syndrome | 2024-02-20 | criteria provided, single submitter | clinical testing |