Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001482908 | SCV001687287 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264125 | SCV002542377 | uncertain significance | Autoinflammatory syndrome | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003883519 | SCV004700958 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | NLRC4: BP4, BP7 |