ClinVar Miner

Variants studied for benign recurrent intrahepatic cholestasis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
27 4 10 0 0 39

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCB11 13 2 6 19
TJP2 11 2 1 14
ATP8B1 2 0 2 4
ATP8B1, LOC100505549 1 0 1 2

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
OMIM 18 0 0 18
Fulgent Genetics,Fulgent Genetics 1 2 4 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 3
Illumina Clinical Services Laboratory,Illumina 1 1 1 3
Baylor Genetics 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 1

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.