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
89 21 92 53 24 254

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Osler hemorrhagic telangiectasia syndrome 57 15 73 40 14 187
not provided 38 5 13 4 10 70
not specified 7 1 8 15 16 44
Juvenile Polyposis 0 0 26 17 0 43
Haemorrhagic telangiectasia 1 0 0 2 1 0 3
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 3 0 0 0 0 3
Hereditary hemorrhagic telangiectasia type 1 1 1 0 0 0 2
Primary pulmonary hypertension 2 0 0 0 0 2
Cerebral arteriovenous malformation 1 0 0 0 0 1
Systemic lupus erythematosus; Osler hemorrhagic telangiectasia syndrome 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 total
Invitae 49 10 46 24 14 143
GeneDx 27 5 6 6 10 54
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 19 1 7 6 15 48
Illumina Clinical Services Laboratory,Illumina 0 0 26 18 0 44
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 3 3 9 15
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 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 Medical Center 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
Blueprint Genetics, 0 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 2
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
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
University of Washington Department of Laboratory Medicine,University of Washington 0 1 0 0 0 1

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