Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264554 | SCV002543152 | likely pathogenic | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003774810 | SCV004667523 | likely benign | Familial hemophagocytic lymphohistiocytosis 3 | 2023-05-09 | criteria provided, single submitter | clinical testing |