Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002249202 | SCV002517462 | likely pathogenic | Cataract 41 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004774638 | SCV005385996 | uncertain significance | not provided | 2024-02-26 | 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 |