ClinVar Miner

Variants studied for Rett syndrome, congenital variant

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
138 67 164 235 47 4 629

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FOXG1 135 67 164 235 47 4 626
ARSJ, FOXG1 1 0 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

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 68 8 146 232 46 0 500
Institute of Human Genetics, University of Leipzig Medical Center 45 15 1 0 0 0 61
Genetic Services Laboratory, University of Chicago 11 7 3 0 0 0 21
RettBASE 20 0 1 0 0 0 21
3billion 3 6 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 1 6 1 0 0 0 8
OMIM 7 0 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 0 7
Baylor Genetics 1 2 3 0 0 0 6
Revvity Omics, Revvity 2 0 4 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 2 3 0 0 0 0 5
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 3 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 1 0 2 0 0 4
Mendelics 2 1 1 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Institute of Cellular and Molecular Medicine, Copenhagen University 3 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 1 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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