ClinVar Miner

Variants in gene ABCB11

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 other not provided total
276 269 827 861 156 1 3 2080

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 151 73 253 829 146 1 0 1350
Familial intrahepatic cholestasis 146 69 367 33 41 0 0 656
Progressive familial intrahepatic cholestasis type 2 84 125 271 26 36 0 0 499
ABCB11-related disorder 16 11 51 56 4 0 0 138
Benign recurrent intrahepatic cholestasis type 2 51 63 11 0 14 0 0 138
not specified 0 0 56 40 34 0 0 123
Inborn genetic diseases 1 0 94 6 0 0 0 101
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 20 42 12 3 2 0 0 76
Progressive familial intrahepatic cholestasis 14 11 6 0 0 0 0 31
Cholestasis, intrahepatic, of pregnancy, 3 2 8 1 0 0 0 0 11
Progressive familial intrahepatic cholestasis type 1 6 1 0 0 0 0 0 7
Familial intrahepatic cholestasis type 2 2 3 0 0 0 0 0 5
Cholestasis, progressive familial intrahepatic, 4 1 1 0 0 0 0 0 2
See cases 1 0 1 0 0 0 0 2
Familial cancer of breast 0 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Progressive familial intrahepatic cholestasis type 3 1 0 0 0 0 0 0 1
Pruritus; Intrahepatic cholestasis; Abnormal liver function tests during pregnancy 1 0 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 140 44 43 791 54 0 0 1072
Genomenon, Inc, Genomenon, Inc 146 69 367 33 41 0 0 656
Eurofins Ntd Llc (ga) 29 6 182 7 13 1 0 238
Natera, Inc. 42 71 81 20 16 0 0 230
GeneDx 8 9 19 52 113 0 0 201
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 21 40 100 0 0 0 0 161
PreventionGenetics, part of Exact Sciences 16 11 51 57 24 0 0 159
Baylor Genetics 51 59 0 0 0 0 0 109
Illumina Laboratory Services, Illumina 3 2 66 9 25 0 0 105
Ambry Genetics 1 0 94 6 0 0 0 101
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 12 51 4 7 0 0 92
Breakthrough Genomics, Breakthrough Genomics 1 0 4 11 58 0 0 74
Mayo Clinic Laboratories, Mayo Clinic 6 2 19 14 24 0 0 65
Fulgent Genetics, Fulgent Genetics 13 35 9 2 1 0 0 60
CeGaT Center for Human Genetics Tuebingen 7 7 14 10 1 0 0 39
Revvity Omics, Revvity 6 8 13 0 0 0 0 27
3billion 9 2 12 1 0 0 0 24
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 18 4 0 0 0 0 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 7 5 0 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 2 7 10 0 0 0 0 19
Genome-Nilou Lab 1 0 2 0 14 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 11 0 0 0 0 14
NIHR Bioresource Rare Diseases, University of Cambridge 2 8 1 0 0 0 0 11
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 5 4 0 0 1 0 0 10
OMIM 7 0 0 0 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 4 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 4 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 4 0 0 6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 1 3 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 2 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 3 2 0 0 0 0 0 5
Mendelics 1 3 0 0 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 4 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 4 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 0 1 1 0 0 4
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 2 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 1 0 0 0 3
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 3 3
Centre of Medical Genetics, University Hospital Muenster 1 0 1 0 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 1 1 0 0 0 0 0 2
Department of Pediatric Gastroenterology, Mersin City Hospital 0 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 0 1
Department of Genetics, Inova Health System 0 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 0 1
Laboratory of Biochemistry, Molecular Biology and Nutrition, Nancy Regional University Hospital Center 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 1

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