ClinVar Miner

Variants in gene JAG1

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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 not provided total
364 146 1016 837 225 523 2689

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alagille syndrome due to a JAG1 point mutation 244 86 465 636 113 5 1523
Cardiovascular phenotype 7 1 322 272 22 0 624
not provided 140 24 258 105 108 1 595
Arteriohepatic dysplasia 2 4 0 0 0 486 492
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 8 5 135 58 5 0 211
JAG1-related disorder 17 22 60 77 1 0 177
Isolated Nonsyndromic Congenital Heart Disease 0 0 55 14 54 0 123
not specified 0 0 16 52 44 0 99
Tetralogy of Fallot 6 1 5 0 5 0 17
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Deafness, congenital heart defects, and posterior embryotoxon 1 1 0 0 5 0 6
Sarcoma 0 0 0 0 0 5 5
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
Cervical cancer 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease, axonal, Type 2HH 3 0 1 0 0 0 4
Retinal dystrophy 0 1 3 0 0 0 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 3 3
Inborn genetic diseases 2 0 1 0 0 0 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 2 2
Hepatic Ductular Hypoplasia 0 2 0 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 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
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 0 1
Congenital heart disease; Congenital anomaly of kidney and urinary tract 0 1 0 0 0 0 1
Conotruncal heart malformations 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
Focal segmental glomerulosclerosis 1 0 0 0 0 0 1
Hepatoblastoma 0 1 0 0 0 0 1
Mesothelioma 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Scoliosis; Pes planus; Aortic dilatation 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 113
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 193 27 434 634 112 0 1400
Ambry Genetics 9 1 323 272 22 0 627
Gilbert/Spinner Lab, Children's Hospital of Philadelphia 0 0 0 0 0 486 486
GeneDx 81 10 101 54 90 1 337
Eurofins Ntd Llc (ga) 66 1 134 14 9 0 224
Fulgent Genetics, Fulgent Genetics 6 5 133 58 5 0 207
PreventionGenetics, part of Exact Sciences 15 22 59 89 22 0 207
Illumina Laboratory Services, Illumina 1 1 58 14 54 0 128
Breakthrough Genomics, Breakthrough Genomics 1 0 5 23 45 0 74
CeGaT Center for Human Genetics Tuebingen 5 5 17 39 5 0 71
Mayo Clinic Laboratories, Mayo Clinic 3 4 5 11 23 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 9 9 19 0 39
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 36 36
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 3 6 16 0 27
Clinical Genetics, Academic Medical Center 0 0 0 3 24 0 27
3billion 9 8 3 0 0 0 20
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 4 3 2 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 12 0 14
Revvity Omics, Revvity 2 1 11 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 3 2 0 0 13
Baylor Genetics 4 1 7 0 0 0 12
AiLife Diagnostics, AiLife Diagnostics 0 0 10 0 0 0 10
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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 2 0 0 0 7
Mendelics 3 0 2 1 1 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 3 2 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 6 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 0 5
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
Gharavi Laboratory, Columbia University 0 3 2 0 0 0 5
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 2 3 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 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
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 3 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 Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 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
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Centre of Medical Genetics, University of Antwerp 0 2 0 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
Genomic Medicine Lab, University of California San Francisco 2 0 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Athena Diagnostics 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 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
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Credence Genomics 1 0 0 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
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 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 Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 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 and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
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
Molecular Genetics Laboratory, Motol Hospital 0 0 1 0 0 0 1
Molecular Lab, University of Sulaimaniyah 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Next Generation Genetic Polyclinic 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
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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