ClinVar Miner

Variants in gene ABCB4

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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
101 81 313 402 104 1 878

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 69 30 236 378 100 0 752
Progressive familial intrahepatic cholestasis type 3 28 19 56 6 15 0 119
ABCB4-related condition 8 11 40 40 0 0 99
Cholestasis, intrahepatic, of pregnancy, 3 13 21 49 5 15 0 98
not specified 0 0 21 33 21 0 67
Inborn genetic diseases 0 0 21 0 0 0 21
Progressive familial intrahepatic cholestasis type 1 6 5 5 0 1 0 17
Low phospholipid associated cholelithiasis 11 2 3 0 0 0 15
Progressive familial intrahepatic cholestasis 2 6 0 0 0 0 8
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 1 0 3 0 0 0 4
ABCB4-Related Intrahepatic Cholestasis 0 1 1 0 0 0 2
ABCB4-related disorders 0 1 0 0 0 1 2
Familial intrahepatic cholestasis type 3 2 0 0 0 0 0 2
See cases 0 0 2 0 0 0 2
ABCB4-related disorder 0 1 0 0 0 0 1
Intrahepatic cholestasis 0 1 0 0 0 0 1
Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 0 1 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 36 12 56 360 37 0 501
Eurofins Ntd Llc (ga) 34 5 161 5 12 0 217
GeneDx 3 5 19 40 79 0 146
PreventionGenetics, part of Exact Sciences 8 11 40 42 12 0 113
Illumina Laboratory Services, Illumina 1 1 47 7 11 0 65
CeGaT Center for Human Genetics Tuebingen 6 6 10 6 2 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 6 17 3 1 0 29
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 16 9 1 0 0 0 26
Mendelics 10 6 7 0 1 0 24
NIHR Bioresource Rare Diseases, University of Cambridge 3 19 0 0 0 0 22
Ambry Genetics 0 0 21 0 0 0 21
Mayo Clinic Laboratories, Mayo Clinic 2 0 16 0 0 0 18
Revvity Omics, Revvity 1 3 12 0 0 0 16
OMIM 13 0 0 0 0 0 13
Baylor Genetics 3 1 5 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 4 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 1 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 5 0 5
Fulgent Genetics, Fulgent Genetics 1 0 3 0 0 0 4
3billion 1 1 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 4
Centogene AG - the Rare Disease Company 2 0 1 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 1 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 1 1 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 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

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