Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001488296 | SCV001692804 | likely benign | DYRK1A-related intellectual disability syndrome | 2020-08-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002298952 | SCV002587838 | uncertain significance | not provided | 2022-04-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |