Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000892607 | SCV001036494 | likely benign | Immunodeficiency, common variable, 7 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV000892607 | SCV002097922 | uncertain significance | Immunodeficiency, common variable, 7 | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957975 | SCV004772969 | likely benign | CR2-related condition | 2023-12-22 | 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). |