Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000602265 | SCV000714684 | benign | not specified | 2017-09-01 | 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 |
RCV001513037 | SCV001720570 | benign | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2024-01-28 | criteria provided, single submitter | clinical testing |