Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001801173 | SCV002047385 | likely pathogenic | Polycystic kidney disease; Hypoplastic aortic arch | 2021-12-13 | criteria provided, single submitter | clinical testing | ACMG categories: PM1,PM2,PM3,PP3 |
Gene |
RCV003120693 | SCV003798581 | uncertain significance | not provided | 2022-08-04 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |