Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002267019 | SCV002549491 | likely pathogenic | not provided | 2022-01-07 | criteria provided, single submitter | clinical testing | Reported in a patient with autosomal dominant polycystic liver disease (van de Laarschot et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33097077) |
Laboratory of Gastroenterology and Hepatology, |
RCV000758156 | SCV000852182 | pathogenic | Autosomal dominant polycystic liver disease | 2018-01-01 | no assertion criteria provided | research |