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
112 34 131 161 109 13 482

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 89 19 66 103 58 0 316
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 23 2 37 45 28 12 135
not specified 7 6 31 29 64 0 129
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1; Lehman syndrome; Infantile myofibromatosis 2 2 4 1 0 0 0 7
Lehman syndrome 7 0 0 0 0 0 7
Inborn genetic diseases 0 0 2 0 0 0 2
Depressivity; Migraine with aura; Stroke 0 1 0 0 0 0 1
Ductal breast carcinoma 0 0 1 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Infantile myofibromatosis 1 0 0 0 0 0 1 1
Infantile myofibromatosis 2 1 0 0 0 0 0 1
Ischemic stroke; Migraine; Behavioral abnormality; Cognitive impairment; Depressivity; Migraine with aura; Abnormality of the cerebral white matter 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; 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
Stroke 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Athena Diagnostics Inc 84 5 49 21 55 0 214
Invitae 0 0 1 91 36 0 128
Illumina Clinical Services Laboratory,Illumina 2 0 32 45 21 0 100
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 6 9 13 44 0 79
PreventionGenetics,PreventionGenetics 0 0 0 7 32 0 39
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 24 2 0 0 32
GeneDx 6 8 6 0 0 0 20
OMIM 18 0 0 0 0 0 18
Mendelics 5 1 3 1 4 0 14
GenomeConnect - CureCADASIL 0 0 0 0 0 12 12
GeneReviews 9 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 2 4 1 0 0 0 7
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 7
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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 5 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 0 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Ambry Genetics 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 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
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
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1

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