Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001472041 | SCV001676168 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264339 | SCV002542412 | uncertain significance | Autoinflammatory syndrome | 2020-11-20 | criteria provided, single submitter | clinical testing |