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
103 23 93 63 58 1 305

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 85 19 32 3 7 0 140
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 18 1 34 45 24 0 118
not specified 0 0 26 20 46 0 90
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Lehman syndrome; Infantile myofibromatosis 2 2 4 1 0 0 0 7
Lehman syndrome 6 0 0 0 0 0 6
Inborn genetic diseases 0 0 2 0 0 0 2
Ductal breast carcinoma 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; Transient ischemic attack 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Migraine; Transient ischemic attack; Tension-type headache; Abnormality of brain morphology 0 1 0 0 0 0 1
Recurrent subcortical infarcts 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Athena Diagnostics Inc 80 7 26 13 35 0 161
Illumina Clinical Services Laboratory,Illumina 2 0 32 45 21 0 100
PreventionGenetics 0 0 0 7 32 0 39
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 15 1 0 0 20
GeneDx 5 8 6 0 0 0 19
OMIM 17 0 0 0 0 0 17
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
GeneReviews 6 0 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
Mendelics 2 0 0 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

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