Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000992800 | SCV001145351 | uncertain significance | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000992800 | SCV001996654 | uncertain significance | not provided | 2019-11-05 | 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 |
Genome- |
RCV001784524 | SCV002026499 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing |