ClinVar Miner

Variants studied for Alagille syndrome

Included ClinVar conditions (9):
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 not provided total
263 115 840 706 117 487 2381

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAG1 248 94 565 654 113 487 2014
NOTCH2 9 20 273 51 4 0 357
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 1 0 1 0 0 0 2
JAG1, MIR6870 1 0 0 1 0 0 2
ANKEF1, JAG1, LAMP5, MKKS, PAK5, PLCB4, SLX4IP, SNAP25 1 0 0 0 0 0 1
FAM13A, JAG1 1 0 0 0 0 0 1
JAG1, LOC112694687, LOC112694688, LOC121627892, LOC125384578, LOC125384579, LOC125384580, LOC126862972, LOC126862973, LOC128706665, LOC128706666, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, MIR6870, MKKS, SLX4IP, SNAP25 1 0 0 0 0 0 1
JAG1, MKKS, SLX4IP, SNAP25 1 0 0 0 0 0 1
JAG1, SLX4IP 0 0 1 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 195 27 436 633 112 0 1403
Fulgent Genetics, Fulgent Genetics 6 11 380 101 7 0 505
Gilbert/Spinner Lab, Children's Hospital of Philadelphia 0 0 0 0 0 486 486
3billion 9 8 4 1 0 0 22
Baylor Genetics 4 4 11 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 5 2 0 0 17
OMIM 15 0 0 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 5 3 1 0 0 14
Department of Human Genetics, Hannover Medical School 2 4 6 1 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 1 6 6 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 0 0 10
Genome-Nilou Lab 0 0 0 0 8 0 8
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 6 0 0 0 0 8
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 3 4 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 2 0 0 0 7
Illumina Laboratory Services, Illumina 1 1 4 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 3 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 0 1 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 1 4 0 0 0 0 5
Gharavi Laboratory, Columbia University 1 4 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 5
MGZ Medical Genetics Center 1 0 4 0 0 0 5
MVZ Medizinische Genetik Mainz 0 2 3 0 0 0 5
Mendelics 3 0 0 1 1 0 5
MVZ Martinsried, Medicover Genetics 0 2 2 0 0 0 4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 4 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 2 2 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 1 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 0 1
Department of Ultrasonography, Fuwai Yunnan Cardiovascular Hospital 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology 0 1 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Sfax Medical Genetics Laboratory, Laboratoire Ksentini 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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