Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001702322 | SCV001933259 | benign | Immunodeficiency, common variable, 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707921 | SCV001935689 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003487730 | SCV004233029 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 81% of patients studied by a panel of primary immunodeficiencies. Number of patients: 77. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001707921 | SCV005240324 | benign | not provided | criteria provided, single submitter | not provided |