Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001681695 | SCV001900711 | benign | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001788759 | SCV002029899 | benign | Agammaglobulinemia 7, autosomal recessive | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001788761 | SCV002029901 | benign | Immunodeficiency 36 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001788760 | SCV002029902 | benign | SHORT syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003394204 | SCV004102013 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 61% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported. |