ClinVar Miner

Variants in gene NOTCH3

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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
277 207 1043 675 255 88 2050

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 224 122 684 608 194 4 1595
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 73 78 139 42 72 26 383
not specified 1 3 110 96 114 0 299
Inborn genetic diseases 0 2 221 7 0 0 230
NOTCH3-related disorder 21 15 27 54 4 0 120
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 10 7 30 21 2 1 71
Lateral meningocele syndrome 7 4 5 0 18 6 34
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 4 7 5 6 1 7 28
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 6 0 0 0 0 0 6
Malignant tumor of esophagus 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 6 6
See cases 0 1 4 1 0 0 6
Myofibromatosis, infantile, 2 1 0 3 1 0 0 5
Pulmonary arterial hypertension 0 0 3 1 1 0 5
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome 0 0 2 0 0 2 4
Cervical cancer 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Familial partial lipodystrophy, Kobberling type 2 1 0 0 0 0 3
Neoplasm 0 0 3 0 0 0 3
Auditory neuropathy 0 2 0 0 0 0 2
Cerebral arterial disease 0 1 1 0 0 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Sneddon syndrome; Myofibromatosis, infantile, 2 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Leukodystrophy, Adult-Onset 2 0 0 0 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Vascular dementia 0 1 1 0 0 0 2
Adams-Oliver syndrome 5 0 1 0 0 0 0 1
Adult onset neurodegenerative disorder 1 0 0 0 0 0 1
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 0 0 1 0 0 0 1
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; Vascular parkinsonism; Cerebral small vessel disease 0 0 0 1 0 0 1
Cerebral cavernous malformation 0 0 0 0 1 0 1
Depression; Migraine with aura; Stroke disorder 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Ischemic stroke; Migraine; Atypical behavior; Cognitive impairment; Depression; Migraine with aura; Abnormal cerebral white matter morphology 1 0 0 0 0 0 1
Ischemic stroke; Transient ischemic attack 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Migraine with aura; Abnormal cerebral white matter morphology 0 1 0 0 0 0 1
Migraine without aura; Stroke disorder 0 1 0 0 0 0 1
Migraine; Transient ischemic attack; Tension-type headache; Abnormal brain morphology 0 1 0 0 0 0 1
Myofibromatosis, infantile, 1 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Progressive psychomotor deterioration 0 1 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1
Recurrent subcortical infarcts 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Stroke disorder 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 121
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 77 30 316 449 102 0 974
Athena Diagnostics 181 21 214 78 102 0 596
Mayo Clinic Laboratories, Mayo Clinic 34 27 61 72 47 0 241
GeneDx 17 18 98 27 79 0 239
CeGaT Center for Human Genetics Tuebingen 22 24 78 99 10 0 233
Ambry Genetics 0 2 221 7 0 0 230
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 28 27 41 55 63 0 214
Illumina Laboratory Services, Illumina 2 0 81 42 58 0 183
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 4 87 38 5 0 160
PreventionGenetics, part of Exact Sciences 19 15 27 59 36 0 156
Breakthrough Genomics, Breakthrough Genomics 0 0 0 34 66 0 100
Fulgent Genetics, Fulgent Genetics 7 4 21 19 2 0 53
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 39 39
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 1 13 21 0 37
GenomeConnect - CureCADASIL 0 0 0 0 0 37 37
3billion 11 12 8 0 0 0 31
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 2 2 23 2 0 31
OMIM 28 0 1 0 0 0 29
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 8 13 0 24
Revvity Omics, Revvity 0 3 21 0 0 0 24
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 7 5 6 1 0 22
Institute of Human Genetics, University of Leipzig Medical Center 6 11 4 0 0 0 21
MGZ Medical Genetics Center 8 7 6 0 0 0 21
Mendelics 7 1 5 1 5 0 19
NHS Central & South Genomic Laboratory Hub 12 6 1 0 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 15 2 1 0 18
Genome-Nilou Lab 0 0 0 0 18 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 7 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 4 8 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 7 0 1 0 13
Clinical Genetics Laboratory, Skane University Hospital Lund 4 2 6 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 10 0 11
GeneReviews 0 0 0 0 0 9 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 2 0 0 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 6 1 1 0 0 0 8
Dasa 7 1 0 0 0 0 8
AiLife Diagnostics, AiLife Diagnostics 0 0 7 0 0 0 7
Baylor Genetics 0 1 6 0 0 0 7
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 7 0 0 0 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 2 3 2 0 0 0 7
Variantyx, Inc. 1 6 0 0 0 0 7
Centre of Medical Genetics, University Hospital Muenster 0 0 5 1 0 0 6
Eurofins Ntd Llc (ga) 0 0 5 0 1 0 6
Genetics and Molecular Pathology, SA Pathology 1 1 3 1 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 5 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 5 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 2 0 0 0 5
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 3 1 1 0 5
New York Genome Center 0 0 5 0 0 0 5
Department of Human Genetics, Hannover Medical School 0 4 0 0 0 0 4
Istanbul Faculty of Medicine, Istanbul University 0 3 1 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 1 2 0 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Myllykangas group, University of Helsinki 0 1 1 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 2 0 0 0 0 2
Acupuncture, Moxibustion and Neurology Department, Guang'anmen Hospital, China Academy of Chinese Medical Sciences 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center for Applied Genomics, Children's Hospital of Philadelphia 0 0 0 0 0 1 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 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 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 1
Department of General Medicine, Faculty of Medicine, Juntendo University 0 1 0 0 0 0 1
Department of Neurology, National Cerebral and Cardiovascular Center 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics Clinic, University of Catania 0 1 0 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
The Egyptian Network for Neurodegenerative Diseases (ENND), The American University in Cairo 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1

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