Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884999 | SCV001028416 | benign | TNF receptor-associated periodic fever syndrome (TRAPS) | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264047 | SCV002543112 | likely benign | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940516 | SCV004749405 | benign | TNFRSF1A-related disorder | 2019-05-08 | 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). |
Molecular Genetics Laboratory, |
RCV000884999 | SCV002029174 | likely benign | TNF receptor-associated periodic fever syndrome (TRAPS) | 2021-11-18 | no assertion criteria provided | clinical testing |