ClinVar Miner

Variants in gene NOTCH1

See also:
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 other not provided total
111 107 2118 2227 799 6 129 4431

Condition and significance breakdown #

Total conditions: 77
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Adams-Oliver syndrome 5 68 34 1115 1596 670 0 1 3257
Familial thoracic aortic aneurysm and aortic dissection 7 4 987 946 84 0 0 1977
not provided 16 20 703 450 143 0 1 1268
Aortic valve disease 1 10 14 241 175 180 0 0 615
not specified 0 0 46 259 174 0 66 472
NOTCH1-related disorder 7 8 73 122 18 0 1 229
Aortic valve disease 1; Adams-Oliver syndrome 5 1 8 76 20 8 0 3 115
Connective tissue disorder 0 1 6 55 0 0 0 62
Neoplasm 4 5 3 1 0 0 0 13
Hypoplastic left heart syndrome 0 4 4 0 0 0 0 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 8 8
Malignant tumor of esophagus 0 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 7 7
Cholesteatoma of middle ear 0 0 0 0 0 6 0 6
Malignant tumor of urinary bladder 0 0 0 0 0 0 6 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 0 5 5
Heart, malformation of 0 4 1 0 0 0 0 5
Inborn genetic diseases 2 0 3 0 0 0 0 5
Primary central nervous system lymphoma 0 0 5 0 0 0 0 5
Pulmonary arterial hypertension 0 0 2 2 1 0 0 5
Sarcoma 0 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 0 4 4
Adams-Oliver syndrome 5; Aortic valve disorder 0 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 0 4 4
Squamous cell lung carcinoma 0 0 0 0 0 0 4 4
Glioma susceptibility 1 0 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 0 3 3
Rhabdomyosarcoma 0 3 0 0 0 0 0 3
Adenoid cystic carcinoma 0 2 0 0 0 0 0 2
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
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Diffuse glioma, H3 G34 mutant 0 2 0 0 0 0 0 2
Keratoacanthoma 2 0 0 0 0 0 0 2
Marfan syndrome 0 0 1 1 0 0 0 2
Melanoma 0 0 0 0 0 0 2 2
Myeloproliferative neoplasm, unclassifiable 2 0 0 0 0 0 0 2
Neurofibromatosis, type 1 0 0 1 1 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 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; 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
Autosomal dominant NOTCH1-related disorders 0 1 0 0 0 0 0 1
Benign hereditary chorea 0 0 1 0 0 0 0 1
Cardiovascular phenotype 0 0 1 0 0 0 0 1
Cataract 0 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Chronic adenoiditis 0 0 1 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 0 1 1
Congenital heart disease; Adams-Oliver syndrome 5; Aortic valve disorder 0 0 0 0 0 0 1 1
Congenital heart disease; Congenital anomaly of kidney and urinary tract 1 0 0 0 0 0 0 1
Diffuse midline glioma, H3 K27M-mutant 0 1 0 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 1 0 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
Embryonal rhabdomyosarcoma 0 1 0 0 0 0 0 1
IDH-wildtype glioblastoma 0 1 0 0 0 0 0 1
KA-like vemurafenib-induced squamous lesions 1 0 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve 0 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
See cases 0 1 0 0 0 0 0 1
Shone complex 0 0 1 0 0 0 0 1
T-cell acute lymphoblastic leukemia 1 0 0 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
Thymoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 44 14 947 1598 607 0 0 3210
Ambry Genetics 9 3 933 925 46 0 0 1916
GeneDx 13 10 569 417 137 0 0 1145
Genome-Nilou Lab 0 0 211 168 180 0 0 559
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 34 135 155 0 0 326
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 42 107 27 0 0 183
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 38 70 46 0 0 155
Breakthrough Genomics, Breakthrough Genomics 0 0 4 56 78 0 0 138
Mayo Clinic Laboratories, Mayo Clinic 0 1 37 40 50 0 0 128
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
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 51 51
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
Centre of Medical Genetics, University of Antwerp 8 2 20 0 0 0 0 30
Revvity Omics, Revvity 1 0 26 0 0 0 0 27
Blueprint Genetics 0 1 22 3 0 0 0 26
Baylor Genetics 2 1 19 0 0 0 0 22
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 18 0 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 7 7 0 0 17
AiLife Diagnostics, AiLife Diagnostics 0 1 15 0 0 0 0 16
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
Clinical Genetics, Academic Medical Center 0 0 0 0 14 0 0 14
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 4 5 3 1 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 1 0 0 0 13
Mendelics 0 1 3 6 3 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 5 3 0 0 0 11
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 10 0 0 0 0 0 11
Molecular and Medical Genetics Group, King's College London 4 4 1 0 0 0 0 9
OMIM 9 0 0 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 8 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
Johns Hopkins Genomics, Johns Hopkins University 0 3 3 1 0 0 0 7
Daryl Scott Lab, Baylor College of Medicine 1 0 5 0 0 0 0 6
Department of Human Genetics, Nagasaki University 0 0 0 0 0 6 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 3 0 0 0 0 5
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 2 2 1 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 0 1 0 0 5
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 5 0 0 0 0 0 5
National Institute of Cancer Research, National Health Research Institutes 0 0 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 1 0 0 0 5
3billion 1 2 1 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 4 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 3 0 0 0 0 4
New York Genome Center 1 0 3 0 0 0 0 4
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
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
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 0 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
CGC Genetics, Unilabs 0 1 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 0 1
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital 1 0 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Genomics And Bioinformatics Analysis Resource, Columbia University 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 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
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1

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