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
42 28 574 627 185 71 1338

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adams-Oliver syndrome 5 25 11 396 204 102 0 729
not specified 0 0 14 241 69 66 362
not provided 4 9 94 202 49 0 355
Cardiovascular phenotype 1 0 113 121 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 disorder; Adams-Oliver syndrome 5 0 0 20 0 0 2 22
Aortic valve disorder 7 1 0 6 5 0 19
Inborn genetic diseases 3 0 2 0 0 0 5
Heart, malformation of 0 3 0 0 0 0 3
Adenoid cystic carcinoma 0 2 0 0 0 0 2
Anophthalmia - microphthalmia 0 0 0 2 0 0 2
Aortic valve disorder; 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
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
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 1 386 341 103 0 838
GeneDx 4 6 69 300 109 0 488
Ambry Genetics 4 0 115 121 43 0 283
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
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 4 0 1 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
Baylor Genetics 1 0 0 0 0 0 1
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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

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