ClinVar Miner

Variants studied for cholestasis, progressive familial intrahepatic, 4

Included ClinVar conditions (2):
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
34 21 16 3 8 78

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TJP2 33 20 16 3 8 76
ABCB11 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 10 3 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 1 8 1 1 11
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 5 3 0 0 0 8
OMIM 7 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 7
Neuberg Centre For Genomic Medicine, NCGM 0 4 3 0 0 7
Baylor Genetics 3 0 1 0 0 4
3billion 1 0 0 2 0 3
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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