Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Immunology and Genetics Kaiserslautern | RCV003595847 | SCV004363619 | likely pathogenic | Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 | 2024-02-02 | criteria provided, single submitter | clinical testing | ACMG Criteria: PS4, PM2_P, PP3, PP4, PP5; Variant was found in heterozygous state |