ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) (rs1057524081)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991407 SCV001142803 likely pathogenic Cholestasis, progressive familial intrahepatic 1; Cholestasis of pregnancy 2019-06-20 criteria provided, single submitter clinical testing
Hadassah Hebrew University Medical Center RCV001254601 SCV001430592 likely pathogenic Cholestasis, progressive familial intrahepatic 1 2019-06-20 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.