Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546974 | SCV000655418 | benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821634 | SCV002070896 | benign | not specified | 2021-11-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263807 | SCV002542404 | benign | Autoinflammatory syndrome | 2022-03-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002263806 | SCV002544020 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | NLRC4: BP4, BS1, BS2 |
Prevention |
RCV003925705 | SCV004746611 | benign | NLRC4-related disorder | 2019-05-15 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |