Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000087111 | SCV000119972 | benign | Leukocyte adhesion deficiency 1 | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723674 | SCV001949823 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003488386 | SCV004232854 | 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 21% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported. |