Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001449179 | SCV001652288 | likely benign | Chédiak-Higashi syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762682 | SCV001990711 | uncertain significance | not provided | 2019-04-04 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome Diagnostics Laboratory, |
RCV002264324 | SCV002543642 | uncertain significance | Autoinflammatory syndrome | 2020-02-01 | criteria provided, single submitter | clinical testing |