Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003442299 | SCV004169792 | uncertain significance | not provided | 2023-05-03 | criteria provided, single submitter | clinical testing | Reported in the heterozygous state in a patient with intrahepatic cholestasis of pregnancy (Aydin et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32917322) |