ClinVar Miner

Variants studied for CHARGE syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 association not found not provided total
472 156 1428 1533 470 1 3 3987

Gene and significance breakdown #

Total genes and gene combinations: 20
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
CHD7 440 147 981 1223 422 1 3 3147
SEMA3E 0 1 375 254 28 0 0 657
CHD7, LOC126860403 27 3 65 56 20 0 0 166
​intergenic 1 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, NKAIN3, RAB2A 1 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, RAB2A 0 0 1 0 0 0 0 1
ASPH, CHD7, CLVS1 1 0 0 0 0 0 0 1
CACNA2D1, HGF, PCLO, SEMA3A, SEMA3D, SEMA3E 0 0 1 0 0 0 0 1
CHD7, LOC126860403, LOC130000466, LOC130000467, LOC130000468 1 0 0 0 0 0 0 1
CLCNKA, LOC106501712 0 0 1 0 0 0 0 1
EP300 0 1 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 1
LOC129998730, SEMA3E 0 0 1 0 0 0 0 1
NPHP4 0 0 1 0 0 0 0 1
PUF60 0 1 0 0 0 0 0 1
RERE 0 1 0 0 0 0 0 1
SEMA3A, SEMA3E 0 0 1 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 119
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Labcorp Genetics (formerly Invitae), Labcorp 297 31 1329 1526 461 0 0 3644
3billion 31 16 12 0 0 0 0 59
Genetic Services Laboratory, University of Chicago 31 3 10 0 2 0 0 46
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 26 3 6 0 6 0 0 41
Baylor Genetics 13 5 12 0 0 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 10 0 0 0 0 27
University of Washington Center for Mendelian Genomics, University of Washington 0 20 0 0 0 0 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 6 5 2 1 0 0 19
Mendelics 9 1 2 2 2 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 11 0 1 0 0 15
OMIM 14 0 1 0 0 0 0 15
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 15 0 0 0 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 8 3 2 0 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 12 1 0 0 0 0 0 13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 11 2 0 0 0 0 0 13
Genome-Nilou Lab 0 0 0 0 12 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 0 3 0 0 0 0 12
Daryl Scott Lab, Baylor College of Medicine 8 0 2 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 1 6 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 5 0 0 0 0 9
New York Genome Center 3 0 6 0 0 0 0 9
Institute of Human Genetics Munich, TUM University Hospital 5 3 0 0 0 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 8
MGZ Medical Genetics Center 0 3 5 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 0 0 0 0 0 8
Medical Genetics and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University 2 5 0 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 2 0 0 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 4 2 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 3 3 0 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 3 2 1 0 0 0 0 6
Institute of Rare Diseases, West China Hospital, Sichuan University 2 4 0 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 4 1 0 0 0 0 0 5
Lifecell International Pvt. Ltd 1 4 0 0 0 0 0 5
MVZ Medizinische Genetik Mainz 0 0 5 0 0 0 0 5
Autoinflammatory diseases unit, CHU de Montpellier 4 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 2 2 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 3 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 1 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 0 3
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 1 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 3 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 2
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 0 0 0 0 0 2
Dasa 1 1 0 0 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 1 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Gharavi Laboratory, Columbia University 0 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 1 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 2 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 0 2
The Translational Medicine Center of Children Development and Disease, Fudan University 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 1
Department of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 0 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
Genetic Outpatient Clinic, Children's Memorial Health Institute 0 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 0 1
Genologica Medica 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, BGI Genomics 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius university 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.