ClinVar Miner

Variants in gene ENG

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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 total
194 46 211 113 39 548

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary hemorrhagic telangiectasia 100 11 117 51 18 297
Hereditary hemorrhagic telangiectasia type 1 90 31 87 40 22 250
not provided 39 6 20 30 7 102
not specified 6 1 8 14 17 42
Juvenile Polyposis 0 0 4 0 0 4
Haemorrhagic telangiectasia 1 0 0 2 1 0 3
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 3 0 0 0 0 3
Primary pulmonary hypertension 1 2 0 0 0 0 2
Cerebral arteriovenous malformation 1 0 0 0 0 1
Galloway-Mowat syndrome 1 0 0 0 0 1 1
Inborn genetic diseases 1 0 0 0 0 1
Pulmonary arterial hypertension 1 0 0 0 0 1
Spontaneous, recurrent epistaxis 1 0 0 0 0 1
Systemic lupus erythematosus; Hereditary hemorrhagic telangiectasia type 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 128 18 138 66 20 370
Illumina Clinical Services Laboratory,Illumina 0 0 51 31 7 89
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 34 4 12 9 21 80
NIHR Bioresource Rare Diseases, University of Cambridge 37 14 5 4 1 61
GeneDx 27 5 6 6 13 57
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 3 3 10 16
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 8 5 0 14
PreventionGenetics, PreventionGenetics 0 0 0 4 8 12
OMIM 8 0 0 0 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 1 0 3 7
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 5
Medical & Molecular Genetics Group,University of Lincoln 5 0 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 3 1 0 4
Genetic Services Laboratory, University of Chicago 1 0 0 2 0 3
Clinical Genetics laboratory, University of Goettingen 1 1 0 0 0 2
Mendelics 0 0 1 0 1 2
Blueprint Genetics 0 1 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Ambry Genetics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
Breda Genetics srl 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1

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