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 total
394 31 130 12 18 559

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MECP2 390 29 130 12 18 553
CDKL5 1 1 0 0 0 2
IRAK1, MECP2, MIR718 2 0 0 0 0 2
GABBR2 1 0 0 0 0 1
RHOBTB2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
RettBASE 326 3 115 0 0 444
Genetic Services Laboratory, University of Chicago 48 1 1 0 0 50
Integrated Genetics/Laboratory Corporation of America 15 4 5 2 7 33
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 13 7 5 2 1 28
OMIM 24 0 0 0 0 24
Mendelics 11 3 2 3 5 24
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 23
Center for Human Genetics, Inc 7 2 1 2 0 12
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 0 1 1 1 12
GeneReviews 8 0 0 0 0 8
Institute of Human Genetics,Klinikum rechts der Isar 6 1 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 2 0 7
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 6
Athena Diagnostics Inc 5 0 0 0 0 5
Undiagnosed Diseases Network,NIH 4 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 2 0 0 3
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn 3 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 0 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 0 0 0 2 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 2
TIDEX, University of British Columbia 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 1
Choi Lab,Seoul National University 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1

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