ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3766-10C>T

gnomAD frequency: 0.00001  dbSNP: rs369104228
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360354 SCV000342585 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Invitae RCV000360354 SCV001066262 likely benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274995 SCV001459641 likely benign Progressive familial intrahepatic cholestasis type 2 2020-09-16 no assertion criteria provided 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.