Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000894690 | SCV001038692 | benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264062 | SCV002542360 | likely benign | Autoinflammatory syndrome | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920823 | SCV004731834 | benign | NLRC4-related disorder | 2019-04-09 | 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). |