Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033985 | SCV001197309 | likely benign | DYRK1A-related intellectual disability syndrome | 2022-11-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772202 | SCV001993925 | uncertain significance | not provided | 2021-10-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25641759) |