Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429323 | SCV000528123 | likely benign | not specified | 2016-05-27 | 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. |
Genome Diagnostics Laboratory, |
RCV002263687 | SCV002543528 | uncertain significance | Autoinflammatory syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002521795 | SCV002931516 | likely benign | Majeed syndrome | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Department of Human Genetics, |
RCV002521795 | SCV004175700 | uncertain significance | Majeed syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing |