Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262077 | SCV002542356 | uncertain significance | Autoinflammatory syndrome | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003095940 | SCV002950213 | likely benign | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2023-12-15 | criteria provided, single submitter | clinical testing |