Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001517130 | SCV001725564 | benign | TNF receptor-associated periodic fever syndrome (TRAPS) | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264369 | SCV002543115 | likely benign | Autoinflammatory syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003931099 | SCV004743272 | likely benign | TNFRSF1A-related disorder | 2019-05-08 | 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). |
Molecular Genetics Laboratory, |
RCV001517130 | SCV002029176 | likely benign | TNF receptor-associated periodic fever syndrome (TRAPS) | 2021-11-18 | no assertion criteria provided | clinical testing |