Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986584 | SCV001135609 | benign | Familial cold autoinflammatory syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003489989 | SCV004234003 | 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 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 27. Only high quality variants are reported. |