Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652413 | SCV000774283 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263915 | SCV002542411 | likely benign | Autoinflammatory syndrome | 2022-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965401 | SCV004783362 | likely benign | NLRC4-related disorder | 2023-02-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |