Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125557 | SCV000169009 | benign | not specified | 2012-12-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002055581 | SCV002481824 | likely benign | TNF receptor-associated periodic fever syndrome (TRAPS) | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262724 | SCV002543097 | uncertain significance | Autoinflammatory syndrome | 2021-02-25 | criteria provided, single submitter | clinical testing |