ClinVar Miner

Variants in gene NOTCH3

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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
130 69 257 183 145 20 682

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 106 32 116 124 58 1 412
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 27 9 103 42 63 18 244
not specified 2 4 30 25 66 0 120
none provided 8 16 13 18 52 0 107
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1; Lateral meningocele syndrome; Infantile myofibromatosis 2 2 4 1 0 0 0 7
Lateral meningocele syndrome 7 0 0 0 0 0 7
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 1 3 1 1 0 0 6
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 0 3 0 0 0 0 3
Inborn genetic diseases 0 0 3 0 0 0 3
Infantile myofibromatosis 2 1 0 2 0 0 0 3
Vascular dementia 0 1 1 0 0 0 2
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 0 0 1 0 0 0 1
Depressivity; Migraine with aura; Stroke 0 1 0 0 0 0 1
Ductal breast carcinoma 0 0 1 0 0 0 1
Infantile myofibromatosis 1 0 0 0 0 0 1 1
Ischemic stroke, susceptibility to; Migraine; Behavioral abnormality; Cognitive impairment; Depressivity; Migraine with aura; Abnormality of the cerebral white matter 1 0 0 0 0 0 1
Ischemic stroke, susceptibility to; Transient ischemic attack 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Migraine with aura; Abnormality of the cerebral white matter 0 1 0 0 0 0 1
Migraine without aura; Stroke 0 1 0 0 0 0 1
Migraine; Transient ischemic attack; Tension-type headache; Abnormality of brain morphology 0 1 0 0 0 0 1
Progressive psychomotor deterioration 0 1 0 0 0 0 1
Recurrent subcortical infarcts 0 1 0 0 0 0 1
Seizures 0 0 1 0 0 0 1
Stroke 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Athena Diagnostics Inc 97 13 79 37 73 0 299
Illumina Clinical Services Laboratory,Illumina 2 0 83 42 58 0 185
Invitae 2 0 12 93 36 0 143
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 10 20 21 28 55 0 134
CeGaT Praxis fuer Humangenetik Tuebingen 9 9 30 9 0 0 57
PreventionGenetics, PreventionGenetics 0 0 0 7 32 0 39
GeneDx 6 8 6 0 0 0 20
OMIM 18 0 0 0 0 0 18
GenomeConnect - CureCADASIL 0 0 0 0 0 18 18
Mendelics 5 1 3 1 4 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 4 8 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 5 4 0 0 0 12
GeneReviews 9 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 2 4 1 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
Baylor Genetics 0 0 6 0 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 3 1 1 0 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 0 1 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 5 0 0 0 0 0 5
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 3 1 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Ambry Genetics 0 0 3 0 0 0 3
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
New York Genome Center 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 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
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
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Department of Neurology,National Cerebral and Cardiovascular Center 1 0 0 0 0 0 1

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