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
130 27 163 93 39 400

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary hemorrhagic telangiectasia type 1 50 17 87 34 22 196
Hereditary hemorrhagic telangiectasia 57 5 52 23 18 155
not provided 39 5 19 30 7 100
Juvenile Polyposis 0 0 26 17 0 43
not specified 6 1 8 15 17 43
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 2 0 0 0 0 2
Cerebral arteriovenous malformation 1 0 0 0 0 1
Pulmonary arterial hypertension 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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 87 14 81 47 20 249
Illumina Clinical Services Laboratory,Illumina 0 0 59 34 7 89
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 27 3 11 6 21 68
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
Institute of Human Genetics,University of Goettingen 1 1 0 0 0 2
Mendelics 0 0 1 0 1 2
Blueprint Genetics 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 2
Institute of Human Genetics,Klinikum rechts der Isar 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
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 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
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 1

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