ClinVar Miner

Variants in gene JAG1

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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
343 129 932 765 220 488 2495

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alagille syndrome due to a JAG1 point mutation 220 74 422 593 110 5 1404
not provided 136 20 233 91 107 1 552
Arteriohepatic dysplasia 2 4 10 2 0 486 504
Cardiovascular phenotype 7 1 263 215 15 0 501
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 7 5 135 58 5 0 210
JAG1-related disorder 17 22 60 77 1 0 177
Isolated Nonsyndromic Congenital Heart Disease 0 0 68 19 57 0 144
not specified 0 0 15 44 43 0 91
Tetralogy of Fallot 6 1 5 0 5 0 17
Deafness, congenital heart defects, and posterior embryotoxon 1 1 0 0 5 0 6
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 1 0 3 0 0 0 4
Atypical coarctation of aorta 0 4 0 0 0 0 4
Retinal dystrophy 0 1 3 0 0 0 4
Charcot-Marie-Tooth disease, axonal, Type 2HH 2 0 1 0 0 0 3
Inborn genetic diseases 2 0 1 0 0 0 3
Hepatic Ductular Hypoplasia 0 2 0 0 0 0 2
See cases 1 0 1 0 0 0 2
Alagille syndrome due to a JAG1 point mutation; Charcot-Marie-Tooth disease, axonal, Type 2HH 0 0 1 0 0 0 1
Arteriohepatic dysplasia; Heart, malformation of 1 0 0 0 0 0 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 0 1
Deafness 1 0 0 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 1 0 0 0 0 1
Hepatoblastoma 0 1 0 0 0 0 1
Scoliosis; Pes planus; Aortic dilatation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 100
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 179 24 397 591 109 0 1300
Ambry Genetics 9 1 264 215 15 0 504
Gilbert/Spinner Lab, Children's Hospital of Philadelphia 0 0 0 0 0 486 486
GeneDx 76 7 81 54 90 1 309
Eurofins Ntd Llc (ga) 66 1 134 14 9 0 224
PreventionGenetics, part of Exact Sciences 15 22 59 89 22 0 207
Fulgent Genetics, Fulgent Genetics 6 5 133 58 5 0 207
Illumina Laboratory Services, Illumina 1 1 70 19 57 0 148
Breakthrough Genomics, Breakthrough Genomics 1 0 5 23 45 0 74
CeGaT Center for Human Genetics Tuebingen 4 5 10 29 3 0 51
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 8 7 18 0 34
Clinical Genetics, Academic Medical Center 0 0 0 3 24 0 27
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 3 6 16 0 27
OMIM 17 0 0 0 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 8 6 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 5 8 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 12 0 14
Revvity Omics, Revvity 2 1 10 0 0 0 13
Baylor Genetics 4 1 7 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 3 2 0 0 11
3billion 6 4 1 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 4 2 1 0 0 10
AiLife Diagnostics, AiLife Diagnostics 0 0 10 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 1 6 3 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 2 3 4 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 3 2 3 0 9
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 6 0 0 0 0 8
Mendelics 3 0 2 1 1 0 7
Genetic Services Laboratory, University of Chicago 0 0 1 3 2 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 2 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 0 5
Gharavi Laboratory, Columbia University 0 3 2 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 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
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 2 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Centre of Medical Genetics, University of Antwerp 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Athena Diagnostics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 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

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