Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000537692 | SCV001995754 | uncertain significance | not provided | 2019-09-20 | 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 |
Invitae | RCV002060311 | SCV002434913 | likely benign | Bardet-Biedl syndrome | 2021-12-08 | criteria provided, single submitter | clinical testing |