Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000709048 | SCV000838282 | uncertain significance | Hereditary Cancer Syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000817726 | SCV000958305 | uncertain significance | not provided | 2018-11-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with leucine at codon 233 of the XRCC2 protein (p.Gln233Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with XRCC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Mendelics | RCV000988012 | SCV001137558 | uncertain significance | Fanconi anemia, complementation group U | 2019-05-28 | criteria provided, single submitter | clinical testing |