Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002049743 | SCV002107365 | uncertain significance | not provided | 2022-03-16 | 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 |
Laboratory of Medical Genetics, |
RCV002464494 | SCV002760049 | uncertain significance | Intellectual disability, X-linked 1 | 2022-11-29 | criteria provided, single submitter | research | |
Invitae | RCV002464494 | SCV004622115 | benign | Intellectual disability, X-linked 1 | 2023-05-16 | criteria provided, single submitter | clinical testing |