Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607909 | SCV000717744 | likely benign | not specified | 2017-04-05 | 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 | RCV001053920 | SCV001218206 | likely benign | Immunodeficiency, common variable, 10 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953027 | SCV004773255 | likely benign | NFKB2-related condition | 2020-02-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |