Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics |
RCV001171563 | SCV001334353 | uncertain significance | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001171563 | SCV002578873 | uncertain significance | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); 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; Apparently de novo variant in a patient with autism previously tested at GeneDx; This variant is associated with the following publications: (PMID: 25641759) |
Invitae | RCV003640959 | SCV004508667 | likely benign | DYRK1A-related intellectual disability syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing |