Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001444468 | SCV001647471 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2022-08-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264321 | SCV002542392 | uncertain significance | Autoinflammatory syndrome | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003334053 | SCV004042067 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | NLRC4: BP4, BP7 |