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 not provided total
46 35 753 718 186 71 1600

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adams-Oliver syndrome 5 30 12 576 360 102 0 1069
not specified 0 0 15 241 69 66 363
not provided 4 9 97 203 50 0 359
Cardiovascular phenotype 1 0 110 124 43 0 278
Familial thoracic aortic aneurysm and aortic dissection 0 1 46 41 53 0 140
Connective tissue disease 0 1 6 57 0 0 64
Aortic valve disease 1 7 2 16 6 5 0 36
Aortic valve disease 1; Adams-Oliver syndrome 5 0 1 22 0 0 2 25
Hypoplastic left heart syndrome 0 4 4 0 0 0 8
Inborn genetic diseases 3 0 5 0 0 0 8
Heart, malformation of 0 3 0 0 0 0 3
Adenoid cystic carcinoma 0 2 0 0 0 0 2
Anophthalmia-microphthalmia syndrome 0 0 0 2 0 0 2
Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 0 0 2 0 0 0 2
Marfan syndrome 0 0 1 1 0 0 2
Non-small cell lung cancer 0 0 0 0 0 2 2
Arterial dissection 0 0 1 0 0 0 1
Bicuspid aortic valve 0 0 1 0 0 0 1
Chronic adenoiditis 0 0 1 0 0 0 1
Congenital heart defects 0 0 1 0 0 0 1
Early T cell progenitor acute lymphoblastic leukemia 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, type 3 0 0 1 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Hemangioma 0 0 1 0 0 0 1
NOTCH1-Related Disorders 0 0 0 0 0 1 1
Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve 0 0 1 0 0 0 1
Shone complex 0 0 1 0 0 0 1
Tetralogy of Fallot 1 0 0 0 0 0 1
congenital heart defect 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 1 563 447 103 0 1126
GeneDx 4 6 69 300 109 0 488
Ambry Genetics 4 0 115 124 43 0 286
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 42 40 53 0 135
ITMI 1 0 0 0 0 66 67
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 6 57 0 0 64
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 18 6 22 0 46
Blueprint Genetics 0 1 22 3 0 0 26
Centre of Medical Genetics, University of Antwerp 8 2 9 0 0 0 19
Baylor Genetics 1 1 13 0 0 0 15
Fulgent Genetics,Fulgent Genetics 0 0 15 0 0 0 15
Mendelics 0 1 2 6 3 0 12
OMIM 11 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 0 11
Molecular and Medical Genetics Group,King's College London 5 4 1 0 0 0 10
University of Washington Center for Mendelian Genomics, University of Washington 0 3 4 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 4 0 1 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 0 0 0 5
University of British Columbia 0 3 0 0 1 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 0 3 0 0 0 0 3
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Genome Sciences Centre,British Columbia Cancer Agency 0 2 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1

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