ClinVar Miner

Variants studied for Rett syndrome

Included ClinVar conditions (6):
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
471 207 223 89 165 11 931

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MECP2 462 199 214 88 159 11 904
LOC130068854, MECP2 2 5 8 1 6 0 16
CDKL5 1 1 0 0 0 0 2
IRAK1, LOC130068849, LOC130068850, LOC130068851, MECP2, MIR718 2 0 0 0 0 0 2
ATP2B3, BCAP31, BGN, CCNQ, DUSP9, HAUS7, LOC100509091, PNCK, PNMA6E, SLC6A8, TREX2, ZFP92 1 0 0 0 0 0 1
DOK7 0 1 0 0 0 0 1
FOXG1 1 0 0 0 0 0 1
GABBR2 1 0 0 0 0 0 1
IRAK1, MECP2 1 0 0 0 0 0 1
MAP2 0 0 1 0 0 0 1
RHOBTB2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 103
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Centre for Population Genomics, CPG 237 154 103 48 146 0 688
RettBASE 326 3 115 0 0 0 444
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 29 8 20 31 47 0 135
Genetic Services Laboratory, University of Chicago 48 1 1 0 0 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 8 5 2 6 0 44
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 14 7 5 2 1 0 29
OMIM 24 0 0 0 0 0 24
Mendelics 11 4 1 3 5 0 24
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 16 1 1 1 4 0 23
Fulgent Genetics, Fulgent Genetics 5 0 5 11 1 0 22
Institute of Human Genetics, University of Leipzig Medical Center 18 0 2 1 0 0 21
3billion 10 3 1 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 1 2 1 0 13
Baylor Genetics 7 1 4 0 0 0 12
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 2 1 2 0 0 12
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9 0 1 1 1 0 12
Neuberg Centre For Genomic Medicine, NCGM 9 0 3 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 2 0 0 0 0 10
GeneReviews 0 0 0 0 0 8 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 2 1 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 0 2 1 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 1 0 0 0 0 7
MGZ Medical Genetics Center 5 0 1 0 0 0 6
Illumina Laboratory Services, Illumina 5 1 0 0 0 0 6
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 2 0 0 0 0 6
DASA 6 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 0 0 0 0 5
Undiagnosed Diseases Network, NIH 5 0 0 0 0 0 5
Athena Diagnostics Inc 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 4
Blueprint Genetics 1 3 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 1 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
New York Genome Center 1 0 3 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 1 1 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 1 0 0 0 4
Suma Genomics 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Invitae 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 0 0 0 0 2 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 1 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 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 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 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
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Choi Lab, Seoul National University 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Research Centre for Medical Genetics, Federal State Budgetary Scientific Institution 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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