ClinVar Miner

Variants studied for FOXG1 disorder

Included ClinVar conditions (1):
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 not provided total
154 91 233 252 85 7 745

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FOXG1 150 89 233 252 85 7 740
ARSJ, FOXG1 1 0 0 0 0 0 1
FOXG1, LINC01551 1 1 0 0 0 0 1
FOXG1, LINC01551, LINC02281, LINC02282, LINC02326, LINC02327, LOC110120856, LOC110120895, LOC110120904, LOC110121327, LOC110121392, LOC124995354, LOC126861907, PRKD1 1 0 0 0 0 0 1
FOXG1, WDFY1 1 0 0 0 0 0 1
LINC02327 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 76 5 203 240 65 0 589
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 6 7 11 12 32 0 68
Institute of Human Genetics, University of Leipzig Medical Center 45 16 1 0 0 0 62
Centre for Population Genomics, CPG 23 14 2 2 0 0 41
Genetic Services Laboratory, University of Chicago 11 7 3 0 0 0 21
RettBASE 20 0 1 0 0 0 21
3billion 5 12 0 0 0 0 17
Institute of Human Genetics Munich, TUM University Hospital 4 4 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 6 1 0 0 0 8
Revvity Omics, Revvity 2 1 5 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 1 0 0 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 2 3 0 0 0 6
Fulgent Genetics, Fulgent Genetics 2 0 3 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 2 3 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 0 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 3 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 1 0 2 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 4
Mendelics 2 1 1 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 2 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 1 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Institute of Cellular and Molecular Medicine, Copenhagen University 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 1 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Medgenome Labs Pvt Ltd 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 0 1 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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