ClinVar Miner

Variants studied for CHARGE association

Coded as:
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
231 62 377 96 83 1 819

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD7 228 57 307 81 70 1 713
SEMA3E 1 0 69 15 13 0 98
EP300 0 1 0 0 0 0 1
IQSEC2 1 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 1
KMT2D 0 1 0 0 0 0 1
PUF60 0 1 0 0 0 0 1
RERE 0 1 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 122 14 328 90 82 0 636
Genetic Services Laboratory,University of Chicago 31 3 13 0 0 0 47
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 26 3 6 0 6 0 41
Illumina Clinical Services Laboratory,Illumina 0 0 20 1 1 0 22
University of Washington Center for Mendelian Genomics, University of Washington 0 20 0 0 0 0 20
Center for Human Genetics, Inc,Center for Human Genetics, Inc 5 6 5 2 1 0 19
OMIM 15 0 0 0 0 0 15
SBielas Lab, Department of Human Genetics,University of Michigan 15 0 0 0 0 0 15
Mendelics 5 1 2 2 2 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 0 1 0 0 0 9
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Clinical Genetics laboratory, University of Goettingen 2 2 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
Autoinflammatory diseases unit,CHU de Montpellier 4 0 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 1 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 2
The Translational Medicine Center of Children Development and Disease,Fudan University 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Fukami Lab, Dept of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology,Tokyo Medical and Dental University 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.