Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262106 | SCV002542424 | uncertain significance | Autoinflammatory syndrome | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003774824 | SCV004575454 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-08-23 | criteria provided, single submitter | clinical testing |