ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)

gnomAD frequency: 0.00039  dbSNP: rs144848376
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174741 SCV000226103 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000902658 SCV000527605 likely benign not provided 2018-04-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19101985, 23279303, 16290310)
Invitae RCV000902658 SCV001047089 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130293 SCV001289867 benign Progressive familial intrahepatic cholestasis type 2 2017-05-04 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003907565 SCV004726935 benign ABCB11-related disorder 2019-10-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001130293 SCV002077902 likely benign Progressive familial intrahepatic cholestasis type 2 2019-12-09 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.