Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595631 | SCV000705677 | uncertain significance | not provided | 2017-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595631 | SCV001773012 | uncertain significance | not provided | 2020-11-12 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002476311 | SCV002794239 | uncertain significance | Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 | 2022-01-18 | criteria provided, single submitter | clinical testing |