Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Donald Williams Parsons Laboratory, |
RCV000505572 | SCV000599955 | pathogenic | Cholestasis, progressive familial intrahepatic, 4 | 2013-11-06 | no assertion criteria provided | research | This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study homozygous in a 2-year-old male with hepatocellular carcinoma, severe cholestatic liver disease requiring transplant. |