Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000615122 | SCV001722807 | benign | Hyper-IgM syndrome type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712717 | SCV001939379 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV001702692 | SCV004233243 | 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 61% of patients studied by a panel of primary immunodeficiencies. Number of patients: 58. Only high quality variants are reported. |
Diagnostic Laboratory, |
RCV000615122 | SCV000734745 | benign | Hyper-IgM syndrome type 1 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001702692 | SCV001929094 | benign | not specified | no assertion criteria provided | clinical testing |