Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001758120 | SCV001985626 | uncertain significance | not provided | 2019-06-26 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV003591889 | SCV004344222 | likely benign | RYR1-related disorder | 2023-09-26 | criteria provided, single submitter | clinical testing |