Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125555 | SCV000169007 | benign | not specified | 2013-07-02 | 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 | RCV000902110 | SCV001046513 | likely benign | TNF receptor-associated periodic fever syndrome (TRAPS) | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262723 | SCV002543113 | likely benign | Autoinflammatory syndrome | 2019-06-01 | criteria provided, single submitter | clinical testing |