ClinVar Miner

Variants studied for congenital ectropion

Included ClinVar conditions (7):
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
368 209 299 159 96 3 1061

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2D 318 180 255 153 84 3 923
KDM6A 37 25 25 6 10 0 101
CDH1 6 0 14 0 0 0 20
CTNND1, TMX2-CTNND1 4 2 1 0 0 0 6
KMT2A 2 0 0 0 0 0 2
ADCY6, ARF3, CACNB3, CCDC65, CCNT1, DDN, DDX23, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 0 0 0 1
ALG1 0 0 0 0 1 0 1
ATP5MF-PTCD1, PTCD1 0 0 0 0 1 0 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 0 1
DNMT3B 0 0 1 0 0 0 1
HCFC1 0 0 1 0 0 0 1
KMT2B 0 0 1 0 0 0 1
ZBTB24 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 133 29 111 119 82 0 474
Center for Human Genetics, Inc,Center for Human Genetics, Inc 16 94 40 23 1 0 174
Autoinflammatory diseases unit,CHU de Montpellier 106 22 0 0 0 0 128
Genetic Services Laboratory, University of Chicago 51 7 29 0 0 0 87
Baylor Genetics 10 2 36 0 0 0 48
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 7 21 0 34
Fulgent Genetics,Fulgent Genetics 5 0 18 0 0 0 23
Mendelics 7 0 7 5 1 0 20
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 6 7 0 0 0 19
OMIM 17 0 0 0 0 0 17
Shaikh Laboratory, University of Colorado 0 16 0 0 0 0 16
Illumina Clinical Services Laboratory,Illumina 0 0 13 2 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 6 2 1 0 15
Institute of Human Genetics, University of Leipzig Medical Center 2 2 5 3 1 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 12
Institute of Human Genetics, Klinikum rechts der Isar 6 4 0 0 0 0 10
Clinical Genetics laboratory, University of Goettingen 3 3 1 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 4 0 0 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 1 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 2 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 6 0 0 0 0 0 6
New York Genome Center 0 0 6 0 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 1 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 1 0 0 0 0 5
Daryl Scott Lab,Baylor College of Medicine 4 1 0 0 0 0 5
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 0 1 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 2 0 4
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Breda Genetics srl 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Clinical Genomics Program, Stanford Medicine 2 1 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
DeNA Laboratory, DeNA Laboratory 0 1 1 0 0 0 2
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Bjornsson Lab,Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 1
Department of Neonatology,Xingtai People's Hospital 1 0 0 0 0 0 1

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