ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.174C>T (p.Asp58=)

gnomAD frequency: 0.00085  dbSNP: rs11568362
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595893 SCV000705909 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000595893 SCV001118561 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000595893 SCV001779768 likely benign not provided 2020-04-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22795478, 20010382)
Natera, Inc. RCV001829659 SCV002077913 likely benign Progressive familial intrahepatic cholestasis type 2 2021-01-07 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.