Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001515472 | SCV001723554 | benign | Combined immunodeficiency due to LRBA deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001676004 | SCV001895173 | benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003399290 | SCV004102454 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001676004 | SCV005305497 | benign | not provided | criteria provided, single submitter | not provided |