Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001480042 | SCV001684352 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264347 | SCV002542416 | likely benign | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900660 | SCV004712067 | likely benign | NLRC4-related disorder | 2021-10-08 | 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). |