ClinVar Miner

Variants studied for Rett syndrome

Included ClinVar conditions (4):
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
386 28 133 14 21 559

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 382 26 133 14 21 553
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: 38
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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
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 23
Invitae 5 0 2 4 7 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 0 0 0 0 13
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
Fulgent Genetics 5 0 5 0 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 2 1 2 0 7
Athena Diagnostics Inc 5 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 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 3 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 3
Medical Molecular Genetics,National Research Centre 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 3 0 0 0 0 3
GeneReviews 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Mendelics 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
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 1

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