Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418733 | SCV000526994 | likely benign | not specified | 2016-04-19 | 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 | RCV000644777 | SCV000766491 | likely benign | Majeed syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263686 | SCV002543559 | uncertain significance | Autoinflammatory syndrome | 2018-07-01 | criteria provided, single submitter | clinical testing |