Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547015 | SCV000655080 | benign | Severe combined immunodeficiency due to LCK deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675930 | SCV001893899 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003403333 | SCV004102541 | 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 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported. |