Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652414 | SCV000774284 | benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263916 | SCV002542403 | likely benign | Autoinflammatory syndrome | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002510948 | SCV002822627 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | NLRC4: BP4, BP7 |