Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056660 | SCV001221113 | likely benign | Bethlem myopathy 1 | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772271 | SCV001994421 | uncertain significance | not provided | 2019-08-20 | 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 |
Revvity Omics, |
RCV001772271 | SCV003832894 | uncertain significance | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing |