ClinVar Miner

Variants studied for Rett syndrome

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
401 36 132 13 17 1 571

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
MECP2 396 34 132 13 17 1 564
CDKL5 1 1 0 0 0 0 2
IRAK1, MECP2, MIR718 2 0 0 0 0 0 2
GABBR2 1 0 0 0 0 0 1
LOC105373378, MECP2, MIR12129, PNMA6F, ZNF275 1 0 0 0 0 0 1
RHOBTB2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RettBASE 326 3 115 0 0 0 444
Genetic Services Laboratory,University of Chicago 48 1 1 0 0 0 50
Integrated Genetics/Laboratory Corporation of America 18 5 5 2 6 0 36
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 13 7 5 2 1 0 28
OMIM 24 0 0 0 0 0 24
Mendelics 11 3 2 3 5 0 24
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 23
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
Institute of Human Genetics, University of Leipzig Medical Center 8 0 2 0 0 0 10
GeneReviews 8 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 1 2 0 0 8
Institute of Human Genetics,Klinikum rechts der Isar 6 1 0 0 0 0 7
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 6
Athena Diagnostics Inc 5 0 0 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 2 1 0 0 5
Blueprint Genetics 1 3 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
Undiagnosed Diseases Network,NIH 4 0 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 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
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 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

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