Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001515485 | SCV001723572 | benign | Severe combined immunodeficiency due to CTPS1 deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003399291 | SCV004102471 | 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 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported. |