Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986570 | SCV001135590 | benign | Chédiak-Higashi syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001615091 | SCV001839390 | benign | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003396569 | SCV004102231 | 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 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported. |