Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001515739 | SCV001723881 | benign | Familial hemophagocytic lymphohistiocytosis 3 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264368 | SCV002543124 | benign | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003487348 | SCV004233954 | 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 39% of patients studied by a panel of primary immunodeficiencies. Number of patients: 34. Only high quality variants are reported. |