ClinVar Miner

Variants studied for benign recurrent intrahepatic cholestasis

Included ClinVar conditions (6):
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
105 110 133 30 37 387

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCB11 76 79 118 27 36 311
ATP8B1 23 25 8 2 1 58
ABCB11, LOC126806400 6 6 7 1 0 18

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 70 71 4 0 0 144
Illumina Laboratory Services, Illumina 2 2 70 9 25 108
Natera, Inc. 13 5 22 20 16 76
Fulgent Genetics, Fulgent Genetics 5 4 13 4 2 28
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 20 5 0 0 0 25
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 7 6 0 0 20
Genome-Nilou Lab 1 0 2 0 14 17
3billion 6 1 5 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 4 7 0 0 12
OMIM 11 0 0 0 0 11
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 4
MGZ Medical Genetics Center 2 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 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, 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 and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1

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