ClinVar Miner

Variants studied for cholestasis, progressive familial intrahepatic, 4

Included ClinVar conditions (4):
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
86 55 134 29 44 325

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 51 36 113 27 36 243
TJP2 32 16 13 1 8 67
ABCB11, LOC126806400 3 3 7 1 0 14
ATP8B1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 2 2 70 9 25 108
Natera, Inc. 13 5 22 20 16 76
Fulgent Genetics, Fulgent Genetics 5 5 18 3 2 33
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 25 8 0 0 0 33
Genome-Nilou Lab 0 0 2 0 21 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 7 5 0 0 19
OMIM 14 0 0 0 0 14
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 10 3 0 0 0 13
3billion 6 1 5 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 4 6 0 0 11
Baylor Genetics 5 1 1 0 0 7
Mendelics 1 3 0 0 1 5
Genomics And Bioinformatics Analysis Resource, Columbia University 3 2 0 0 0 5
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 2 0 0 0 4
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 1
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
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
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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