Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept. |
RCV002284271 | SCV002573666 | likely pathogenic | Myeloproliferative neoplasm, unclassifiable | 2022-08-25 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003491071 | SCV004233488 | 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 99% of patients studied by a panel of primary immunodeficiencies. Number of patients: 94. Only high quality variants are reported. |