Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002306177 | SCV002599930 | uncertain significance | not provided | 2022-05-01 | 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; Identified as heterozygous in a family with juvenile cholelithiasis in the published literature (Degiorgio et al., 2014); This variant is associated with the following publications: (PMID: 24045840) |