Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001520732 | SCV001729909 | benign | X-linked lymphoproliferative disease due to SH2D1A deficiency | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002246403 | SCV002519332 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264372 | SCV002542944 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing |