Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264509 | SCV002542942 | uncertain significance | Autoinflammatory syndrome | 2022-01-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003621617 | SCV004400128 | likely benign | X-linked lymphoproliferative disease due to SH2D1A deficiency | 2023-11-25 | criteria provided, single submitter | clinical testing |