ClinVar Miner

Variants studied for intrahepatic cholestasis

Included ClinVar conditions (29):
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 not provided total
256 264 404 64 113 6 1023

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCB11 85 105 126 28 36 0 344
ATP8B1 45 52 123 14 41 6 262
ABCB4 43 58 76 7 17 0 181
TJP2 33 20 16 3 8 0 76
UTP4 0 0 28 4 8 0 39
USP53 10 13 7 0 0 0 30
ABCB11, LOC126806400 6 7 9 1 0 0 21
MYO5B 11 0 5 3 1 0 20
NR1H4 5 4 4 0 0 0 13
KIF12 4 4 2 0 0 0 8
ZFYVE19 6 0 2 0 0 0 8
ATP8B1, LOC126862761 2 0 2 0 0 0 4
MYO5B, SNHG22 0 1 1 2 0 0 4
SLC51A 1 0 2 0 0 0 3
ABCB4, LOC129998756 0 0 0 0 2 0 2
VPS33B 2 0 0 0 0 0 2
ABCB4, LOC129998757 0 0 1 0 0 0 1
ATP8B1, LOC126862761, LOC126862762, LOC129390999 1 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 1
LOC126862745, MYO5B, SNHG22 0 0 0 1 0 0 1
LOC130062487, MYO5B 0 0 0 1 0 0 1
SEMA7A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 5 2 252 31 78 0 366
Baylor Genetics 88 96 13 0 0 0 196
Natera, Inc. 13 5 22 20 16 0 76
OMIM 73 0 1 0 0 0 74
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 49 20 1 0 0 0 70
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 23 25 2 1 0 61
Fulgent Genetics, Fulgent Genetics 6 5 28 10 4 0 53
Neuberg Centre For Genomic Medicine, NCGM 6 15 30 0 0 0 51
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 23 0 0 0 0 48
Genome-Nilou Lab 1 0 2 0 37 0 40
3billion 12 9 8 6 0 0 35
NIHR Bioresource Rare Diseases, University of Cambridge 5 27 1 0 0 0 33
Mendelics 8 14 6 0 2 0 30
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 14 3 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 5 0 0 0 12
Genomics And Bioinformatics Analysis Resource, Columbia University 4 4 0 0 0 0 8
GeneReviews 0 0 0 0 0 6 6
Genetics and Molecular Pathology, SA Pathology 3 1 2 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 3 0 0 0 0 6
MGZ Medical Genetics Center 3 0 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 5
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 2 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 2 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 3 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
State Key Laboratory for Diagnosis & Treatment of Infectious Diseases, First Affiliated Hospital, School Of Medicine, Zhejiang University 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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