Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002300565 | SCV002588270 | uncertain significance | not provided | 2022-04-25 | 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 |
Laboratory of Gastroenterology and Hepatology, |
RCV001844888 | SCV001877010 | likely benign | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research |