Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594854 | SCV000708652 | uncertain significance | not provided | 2017-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594854 | SCV002577279 | likely pathogenic | not provided | 2022-09-29 | criteria provided, single submitter | clinical testing | 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); Reported in the heterozygous state in a cohort of infants with parenteral nutrition-associated cholestasis (PNAC) in a higher frequency compared to the non-PNAC cohort (Yang X et al., 2022); This variant is associated with the following publications: (PMID: 35150476) |