ClinVar Miner

Variants in gene NOTCH1

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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 other not provided total
92 73 1842 2021 766 6 75 3941

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Adams-Oliver syndrome 5 58 27 958 1447 648 0 1 2914
Familial thoracic aortic aneurysm and aortic dissection 4 2 812 819 84 0 0 1674
not provided 12 16 626 429 132 0 0 1164
Aortic valve disease 1 9 12 241 175 180 0 0 612
not specified 0 0 39 221 156 0 66 422
NOTCH1-related disorder 7 7 73 122 18 0 1 228
Aortic valve disease 1; Adams-Oliver syndrome 5 1 3 74 20 8 0 2 107
Connective tissue disorder 0 1 6 55 0 0 0 62
Hypoplastic left heart syndrome 0 4 4 0 0 0 0 8
Cholesteatoma of middle ear 0 0 0 0 0 6 0 6
Heart, malformation of 0 4 1 0 0 0 0 5
Inborn genetic diseases 2 0 3 0 0 0 0 5
Pulmonary arterial hypertension 0 0 2 2 1 0 0 5
Adams-Oliver syndrome 5; Aortic valve disorder 0 0 0 0 0 0 4 4
Anophthalmia-microphthalmia syndrome 0 0 0 2 0 0 0 2
Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 0 0 2 0 0 0 0 2
Keratoacanthoma 2 0 0 0 0 0 0 2
Marfan syndrome 0 0 1 1 0 0 0 2
Myeloproliferative neoplasm, unclassifiable 2 0 0 0 0 0 0 2
Abnormal cardiovascular system morphology 1 0 0 0 0 0 0 1
Abnormality of connective tissue 0 0 1 0 0 0 0 1
Adams-Oliver syndrome 1 0 0 0 0 0 0 1
Adams-Oliver syndrome 2; Aortic valve disorder 0 0 0 0 0 0 1 1
Adams-Oliver syndrome; Congenital heart anomalies 0 0 0 0 0 0 1 1
Arterial dissection 0 0 1 0 0 0 0 1
Cardiovascular phenotype 0 0 1 0 0 0 0 1
Chronic adenoiditis 0 0 1 0 0 0 0 1
Early T cell progenitor acute lymphoblastic leukemia 1 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, type 3 0 0 1 0 0 0 0 1
KA-like vemurafenib-induced squamous lesions 1 0 0 0 0 0 0 1
Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve 0 0 1 0 0 0 0 1
See cases 0 1 0 0 0 0 0 1
Shone complex 0 0 1 0 0 0 0 1
Tetralogy of Fallot 1 0 0 0 0 0 0 1
Thoracic aortic aneurysm 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 38 11 789 1453 585 0 0 2876
Ambry Genetics 6 1 763 797 46 0 0 1613
GeneDx 9 7 510 417 137 0 0 1079
Genome-Nilou Lab 0 0 211 168 180 0 0 559
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 27 108 138 0 0 275
PreventionGenetics, part of Exact Sciences 5 7 69 122 18 0 0 221
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 80 80 59 0 0 219
CeGaT Center for Human Genetics Tuebingen 4 3 33 91 19 0 0 150
Breakthrough Genomics, Breakthrough Genomics 0 0 4 56 78 0 0 138
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 22 46 34 0 0 103
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 3 37 39 0 0 79
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 11 43 23 0 0 77
Fulgent Genetics, Fulgent Genetics 0 0 50 18 8 0 0 76
ITMI 1 0 0 0 0 0 66 67
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 9 32 24 0 0 65
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 6 55 0 0 0 62
Eurofins Ntd Llc (ga) 0 0 18 5 22 0 0 45
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 9 25 4 0 0 38
Mayo Clinic Laboratories, Mayo Clinic 0 1 29 0 0 0 0 30
Blueprint Genetics 0 1 22 3 0 0 0 26
Baylor Genetics 2 1 19 0 0 0 0 22
Revvity Omics, Revvity 1 0 21 0 0 0 0 22
Centre of Medical Genetics, University of Antwerp 8 2 7 0 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 7 7 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 15 1 0 0 0 16
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 5 7 4 0 0 16
AiLife Diagnostics, AiLife Diagnostics 0 1 15 0 0 0 0 16
Clinical Genetics, Academic Medical Center 0 0 0 0 14 0 0 14
Mendelics 0 1 3 6 3 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 1 0 0 0 13
OMIM 9 0 0 0 0 0 0 9
Molecular and Medical Genetics Group, King's College London 4 4 1 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 5 0 0 0 0 8
University of Washington Center for Mendelian Genomics, University of Washington 0 4 4 0 0 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 7 0 0 0 0 7
Daryl Scott Lab, Baylor College of Medicine 1 0 5 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Department of Human Genetics, Nagasaki University 0 0 0 0 0 6 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 0 1 0 0 5
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 2 2 1 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 3 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 1 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 4 0 0 0 0 4
New York Genome Center 1 0 3 0 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 0 3 0 0 0 0 0 3
University of British Columbia 0 3 0 0 0 0 0 3
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 3 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 1 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 0 3
3billion 0 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 0 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 2
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 0 1

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