Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000941045 | SCV001086923 | likely benign | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264109 | SCV002543490 | uncertain significance | Autoinflammatory syndrome | 2022-01-17 | criteria provided, single submitter | clinical testing |