Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000603610 | SCV001732148 | benign | Hyper-IgM syndrome type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619808 | SCV001846656 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003488729 | SCV004232867 | 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. |
Diagnostic Laboratory, |
RCV000603610 | SCV000734746 | benign | Hyper-IgM syndrome type 1 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001619808 | SCV001927072 | likely benign | not provided | no assertion criteria provided | clinical testing |