Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192911 | SCV000249454 | uncertain significance | not specified | 2015-06-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762413 | SCV001999312 | uncertain significance | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |