Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993160 | SCV001145935 | uncertain significance | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000993160 | SCV001992943 | uncertain significance | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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 |
Revvity Omics, |
RCV000993160 | SCV003826988 | uncertain significance | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing |