Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV001420458 | SCV001622494 | uncertain significance | Congenital prothrombin deficiency | 2021-04-28 | criteria provided, single submitter | research | |
Gene |
RCV001751760 | SCV001997167 | uncertain significance | not provided | 2020-01-10 | 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
ISTH- |
RCV002243199 | SCV002515799 | uncertain significance | Thrombophilia due to thrombin defect | no assertion criteria provided | research |