Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002549592 | SCV001130726 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2022-10-27 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264134 | SCV002542418 | uncertain significance | Autoinflammatory syndrome | 2021-04-16 | criteria provided, single submitter | clinical testing |