Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept. |
RCV002284273 | SCV002573668 | likely pathogenic | Myeloproliferative neoplasm, unclassifiable | 2022-08-25 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003491073 | SCV004233046 | 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 78% of patients studied by a panel of primary immunodeficiencies. Number of patients: 74. Only high quality variants are reported. |