ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)

gnomAD frequency: 0.00013  dbSNP: rs200857579
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
Illumina Laboratory Services, Illumina RCV000386223 SCV000418949 uncertain significance Progressive familial intrahepatic cholestasis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001475597 SCV001679791 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972400 SCV004795484 uncertain significance ABCB11-related disorder 2024-02-09 criteria provided, single submitter clinical testing The ABCB11 c.2834G>A variant is predicted to result in the amino acid substitution p.Ser945Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.