ClinVar Miner

Variants studied for Alagille syndrome due to a JAG1 point mutation

Coded as:
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
250 87 467 637 113 5 1533

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAG1 244 86 465 636 113 5 1523
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: 70
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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
3billion 9 8 3 0 0 0 20
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 5 3 1 0 0 14
OMIM 13 0 0 0 0 0 13
Baylor Genetics 4 1 6 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 2 0 0 11
Department of Human Genetics, Hannover Medical School 2 3 5 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 1 6 3 0 0 0 10
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 3 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 1 4 0 0 0 0 5
Illumina Laboratory Services, Illumina 1 1 3 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 5
Mendelics 3 0 0 1 1 0 5
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 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
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 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
Credence Genomics 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Department of Ultrasonography, Fuwai Yunnan Cardiovascular Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 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 of Medical Genetics, National & Kapodistrian University of Athens 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
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
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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