ClinVar Miner

Variants studied for cholestasis, intrahepatic, of pregnancy, 3

Included ClinVar conditions (3):
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
20 50 62 5 17 145

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
ABCB4 18 42 60 5 15 131
ABCB11 2 8 1 0 0 11
ABCB4, LOC129998756 0 0 0 0 2 2
ABCB4, LOC129998757 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 45 5 13 63
NIHR Bioresource Rare Diseases, University of Cambridge 5 27 1 0 0 33
Fulgent Genetics, Fulgent Genetics 4 16 6 0 0 26
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 9 8 0 0 19
OMIM 7 0 0 0 0 7
Baylor Genetics 3 0 3 0 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 1

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