Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001516109 | SCV001724335 | benign | Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003487356 | SCV004234089 | 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 23% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported. |