Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002658073 | SCV002970161 | benign | Adams-Oliver syndrome 5 | 2022-06-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003222439 | SCV003918236 | uncertain significance | not provided | 2022-10-12 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |