ClinVar Miner

Variants in gene NOTCH2

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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
67 52 1336 743 161 91 2195

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hajdu-Cheney syndrome 44 17 822 569 86 0 1534
not provided 18 6 375 108 99 0 569
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 9 252 44 2 0 307
NOTCH2-related disorder 2 2 109 109 4 0 226
Inborn genetic diseases 0 1 174 35 0 0 210
not specified 0 0 19 37 45 30 116
Alagille syndrome due to a NOTCH2 point mutation 9 11 28 7 3 0 58
Ovarian serous cystadenocarcinoma 0 0 0 0 0 23 23
See cases 0 1 5 1 2 0 9
Melanoma 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Neoplasm 0 3 2 0 0 0 5
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
Colon adenocarcinoma 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Congenital anomaly of kidney and urinary tract 0 0 2 0 0 0 2
Keratoacanthoma 2 0 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
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Congenital heart anomalies 0 0 1 0 0 0 1
Congenital heart disease 0 0 1 0 0 0 1
Diffuse glioma, H3 G34 mutant 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 1
Hypoplastic left heart syndrome 0 0 1 0 0 0 1
KA-like vemurafenib-induced squamous lesions 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Monoclonal B-Cell Lymphocytosis 1 0 0 0 0 0 1
Paediatric disorders 1 0 0 0 0 0 1
Premature ovarian failure 0 1 0 0 0 0 1
Signet ring cell carcinoma 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
VATER association 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 6 808 570 81 0 1494
Fulgent Genetics, Fulgent Genetics 0 6 247 43 2 0 298
Eurofins Ntd Llc (ga) 9 2 209 14 16 0 250
PreventionGenetics, part of Exact Sciences 2 2 108 110 11 0 233
GeneDx 9 2 99 27 91 0 228
Ambry Genetics 0 1 174 35 0 0 210
CeGaT Center for Human Genetics Tuebingen 1 1 27 64 7 0 100
Breakthrough Genomics, Breakthrough Genomics 0 0 4 20 51 0 75
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 62 62
Mayo Clinic Laboratories, Mayo Clinic 0 0 24 8 20 0 52
ITMI 0 0 0 0 0 30 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 17 13 0 0 30
Revvity Omics, Revvity 0 1 24 0 0 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 11 7 0 20
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 9 0 15
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 13 0 0 15
Baylor Genetics 2 3 8 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 7 3 0 10
3billion 1 4 3 1 0 0 9
Genetic Services Laboratory, University of Chicago 0 0 1 3 5 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 5 3 0 9
OMIM 9 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 6 0 0 0 9
Clinical Genetics, Academic Medical Center 0 0 0 0 8 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 1 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 1 0 6
Gharavi Laboratory, Columbia University 1 1 4 0 0 0 6
Mendelics 1 0 1 2 2 0 6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 3 2 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 2 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 5 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 0 1 2 1 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 2 2 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 4 0 0 0 4
ISCA site 1 0 0 4 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 3 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 3
MGZ Medical Genetics Center 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Blueprint Genetics 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 2 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Metabolic Disease laboratory, Sheba Medical Center 2 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Karsan Lab, BC Cancer Agency 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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