Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001844156 | SCV000483395 | benign | Hyperimmunoglobulin M syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001548988 | SCV001769020 | benign | Hyper-IgM syndrome type 2 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683464 | SCV001898851 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003488576 | SCV004232911 | 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 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported. |