Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001455288 | SCV001659046 | likely benign | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264332 | SCV002542340 | uncertain significance | Autoinflammatory syndrome | 2021-04-07 | criteria provided, single submitter | clinical testing |