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
43 18 100 15 26 194

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCB11 18 8 93 15 26 152
TJP2 22 10 2 0 0 34
ATP8B1 2 0 3 0 0 5
ATP8B1, LOC100505549 1 0 2 0 0 3

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 1 70 9 25 106
Natera, Inc. 1 1 19 8 14 43
OMIM 18 0 0 0 0 18
Baylor Genetics 8 1 5 0 0 14
The Center for Liver Diseases, Children's Hospital of Fudan University 10 3 0 0 0 13
Fulgent Genetics,Fulgent Genetics 1 2 4 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 2 0 0 0 4
Centogene AG - the Rare Disease Company 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Elsea Laboratory,Baylor College of Medicine 0 2 0 0 0 2
Mendelics 0 1 0 0 1 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1

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