ClinVar Miner

Variants in gene ENG

See also:
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
382 109 392 417 88 1214

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary hemorrhagic telangiectasia 264 33 246 277 63 882
Cardiovascular phenotype 115 31 36 170 21 373
Telangiectasia, hereditary hemorrhagic, type 1 93 39 116 43 21 290
not provided 72 26 49 47 20 199
not specified 6 1 18 18 18 59
ENG-related disorder 12 5 9 16 2 44
See cases 3 1 1 0 0 5
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
Pulmonary arterial hypertension 1 0 0 0 1 2
Pulmonary hypertension, primary, 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
Moyamoya disease 2 0 0 1 0 0 1
Systemic lupus erythematosus; Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 266 32 245 281 63 887
Ambry Genetics 115 31 36 170 21 373
GeneDx 37 14 29 15 19 114
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 43 6 24 12 20 105
Illumina Laboratory Services, Illumina 1 0 51 31 7 90
NIHR Bioresource Rare Diseases, University of Cambridge 36 14 5 4 1 60
Mayo Clinic Laboratories, Mayo Clinic 38 9 10 0 0 57
PreventionGenetics, part of Exact Sciences 11 4 9 18 10 52
Fulgent Genetics, Fulgent Genetics 6 2 33 3 0 44
CeGaT Center for Human Genetics Tuebingen 4 1 3 18 8 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 8 6 4 20
Breakthrough Genomics, Breakthrough Genomics 0 0 2 12 5 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 3 3 10 17
Molecular Genetics, Royal Melbourne Hospital 7 0 5 0 0 12
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 3 2 2 3 2 12
Clinical Genetics, Academic Medical Center 1 0 1 4 5 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 0 0 9
OMIM 8 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 1 3 2 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 5 8
Eurofins Ntd Llc (ga) 3 0 1 0 3 7
Clinical Genetics Laboratory, Skane University Hospital Lund 3 4 0 0 0 7
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 2 0 0 0 6
Genetic Services Laboratory, University of Chicago 2 0 1 2 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 2 5
Rare Disease Genomics Group, St George's University of London 5 0 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 3 1 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 1 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 4
Institute of Human Genetics, University of Goettingen 1 1 1 0 0 3
Mendelics 0 0 2 0 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 3
3billion 2 0 1 0 0 3
Blueprint Genetics 0 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 2
Phosphorus, Inc. 0 1 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 0 0 1 1
MGZ Medical Genetics Center 0 1 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 1
Breda Genetics srl 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 1

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