ClinVar Miner

Variants in gene NOTCH3

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Minimum submission review status: Collection method:
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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 not provided total
208 135 667 494 239 39 1467

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 182 88 481 432 191 2 1219
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 43 38 129 42 72 23 319
not specified 0 4 42 41 78 0 159
NOTCH3-related condition 11 6 15 46 4 0 82
Inborn genetic diseases 0 0 47 1 0 0 48
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 6 5 14 19 2 1 47
Lateral meningocele syndrome 7 1 1 0 18 6 27
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 4 4 5 6 1 4 22
Myofibromatosis, infantile, 2 1 0 3 1 0 0 5
Pulmonary arterial hypertension 0 0 3 1 1 0 5
Stroke disorder 0 1 2 1 0 0 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome 0 0 2 0 0 1 3
See cases 0 1 2 0 0 0 3
Auditory neuropathy 0 2 0 0 0 0 2
NOTCH3-Related Disorders 2 0 0 0 0 0 2
Vascular dementia 0 1 1 0 0 0 2
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, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Sneddon syndrome; Myofibromatosis, infantile, 2 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 0 1 0 1
Depression; Migraine with aura; Stroke disorder 0 1 0 0 0 0 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 prostate 0 0 1 0 0 0 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
Progressive psychomotor deterioration 0 1 0 0 0 0 1
Recurrent subcortical infarcts 0 1 0 0 0 0 1
Seizure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 53 19 229 327 97 0 725
Athena Diagnostics Inc 159 18 163 50 86 0 476
Illumina Laboratory Services, Illumina 2 0 82 42 58 0 184
GeneDx 13 13 44 26 79 0 175
CeGaT Center for Human Genetics Tuebingen 17 19 54 63 13 0 166
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 15 25 25 38 59 0 162
PreventionGenetics, part of Exact Sciences 11 6 15 51 36 0 119
Ambry Genetics 0 0 47 1 0 0 48
Fulgent Genetics, Fulgent Genetics 6 4 14 19 2 0 45
Mayo Clinic Laboratories, Mayo Clinic 9 7 24 0 0 0 40
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 1 13 21 0 37
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 2 2 23 2 0 31
GenomeConnect - CureCADASIL 0 0 0 0 0 29 29
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 8 13 0 24
MGZ Medical Genetics Center 9 7 6 0 0 0 22
OMIM 19 0 0 0 0 0 19
Revvity Omics, Revvity 0 2 17 0 0 0 19
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 4 5 6 1 0 19
Mendelics 6 1 6 1 5 0 19
Institute of Human Genetics, University of Leipzig Medical Center 5 8 5 0 0 0 18
Genome-Nilou Lab 0 0 0 0 18 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 12 2 0 0 17
3billion 5 3 8 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 4 8 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 6 0 0 0 11
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 6 2 0 0 0 0 8
Baylor Genetics 0 1 6 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
AiLife Diagnostics, AiLife Diagnostics 0 0 7 0 0 0 7
Eurofins Ntd Llc (ga) 0 0 5 0 1 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 1 3 1 0 0 6
Institute of Human Genetics, University Hospital Muenster 0 0 5 1 0 0 6
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 3 1 1 0 5
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 5 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
DASA 4 1 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 0 3 1 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 2 1 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 3 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Myllykangas group, University of Helsinki 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Center for Applied Genomics, Children's Hospital of Philadelphia 0 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 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
Laboratory of Medical Genetics, University of Torino 0 0 0 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Department of Neurology, National Cerebral and Cardiovascular Center 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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