Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232564 | SCV001405126 | likely benign | DYRK1A-related intellectual disability syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564383 | SCV001787540 | uncertain significance | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | Not observed 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 |