Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518739 | SCV000616034 | uncertain significance | not specified | 2017-04-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755773 | SCV001997635 | uncertain significance | not provided | 2020-01-07 | 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; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001755773 | SCV003824256 | uncertain significance | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing |