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
38 25 440 428 116 70 966

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adams-Oliver syndrome 5 22 9 257 166 90 0 539
not specified 0 0 11 241 69 66 360
Cardiovascular phenotype 1 0 115 119 43 0 278
not provided 3 9 90 1 3 0 106
Thoracic aortic aneurysm and aortic dissection 0 1 34 21 25 0 81
Connective tissue disorder 0 1 6 57 0 0 64
Aortic valve disorder; Adams-Oliver syndrome 5 0 0 19 0 0 1 20
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; 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
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
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

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 0 249 166 89 0 508
GeneDx 3 6 69 238 67 0 383
Ambry Genetics 4 0 117 119 43 0 283
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 30 20 25 0 75
ITMI 1 0 0 0 0 66 67
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 0 0 15 0 0 0 15
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 British Columbia 0 3 0 0 1 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1

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