ClinVar Miner

Variants studied for atypical Rett syndrome

Included ClinVar conditions (12):
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
959 397 686 621 317 17 2679

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MECP2 476 219 226 95 167 11 957
CDKL5 315 101 221 243 74 1 915
FOXG1 136 67 165 235 47 4 628
CDKL5, RS1 9 2 59 46 23 1 132
LOC130068854, MECP2 2 5 8 2 6 0 16
CDKL5, LOC130067999 6 0 0 0 0 0 6
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 2 0 0 0 3
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 0 0 0 2
IRAK1, LOC130068849, LOC130068850, LOC130068851, MECP2, MIR718 2 0 0 0 0 0 2
ARFGAP1, BIRC7, CHRNA4, COL20A1, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SRMS, STMN3, YTHDF1 1 0 0 0 0 0 1
ARSJ, FOXG1 1 0 0 0 0 0 1
ATP2B3, BCAP31, BGN, CCNQ, DUSP9, HAUS7, LOC100509091, PNCK, PNMA6E, SLC6A8, TREX2, ZFP92 1 0 0 0 0 0 1
ATP6V1A 0 0 1 0 0 0 1
BEND2, CDKL5, NHS, RAI2, SCML1, SCML2 1 0 0 0 0 0 1
CACNA1A 0 1 0 0 0 0 1
CDKL5, LOC121853052 0 0 1 0 0 0 1
CDKL5, LOC121853052, LOC130067999 1 0 0 0 0 0 1
DOK7 0 1 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
GABBR2 1 0 0 0 0 0 1
GPHN, PALS1 0 0 1 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
SMC1A 1 0 0 0 0 0 1
SNAP25 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 137
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 247 42 380 513 143 0 1325
Centre for Population Genomics, CPG 247 174 114 51 149 0 735
RettBASE 453 15 126 0 0 0 594
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 31 8 19 36 52 0 146
Institute of Human Genetics, University of Leipzig Medical Center 75 22 6 1 0 0 104
Genetic Services Laboratory, University of Chicago 80 11 11 0 0 0 102
Mendelics 30 10 2 5 7 0 54
OMIM 47 0 0 0 0 0 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 8 5 2 6 0 46
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 5 4 2 0 0 33
Neuberg Centre For Genomic Medicine, NCGM 11 10 12 0 0 0 33
3billion 14 13 4 1 0 0 32
Fulgent Genetics, Fulgent Genetics 8 0 9 12 1 0 30
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 14 7 5 2 1 0 29
Baylor Genetics 10 5 13 0 0 0 28
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 16 1 1 1 4 0 23
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 15 6 0 0 0 0 21
Génétique des Maladies du Développement, Hospices Civils de Lyon 12 4 2 1 1 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 8 3 5 2 0 0 18
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 2 4 0 0 0 17
Revvity Omics, Revvity 5 1 10 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 2 3 2 1 0 16
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 11 2 0 0 0 13
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9 0 1 1 1 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 1 3 1 0 12
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 4 0 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 1 0 0 0 0 12
Undiagnosed Diseases Network, NIH 10 1 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 8 1 2 0 0 0 11
MGZ Medical Genetics Center 5 1 4 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 3 0 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 0 0 0 0 0 8
GeneReviews 0 0 0 0 0 8 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 2 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 4 1 0 0 0 8
Illumina Laboratory Services, Illumina 6 1 0 0 0 0 7
Lifecell International Pvt. Ltd 3 4 0 0 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 3 3 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 1 0 0 0 0 6
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 0 0 6
New York Genome Center 1 2 3 0 0 0 6
Pediatric Department, Xiangya Hospital, Central South University 6 0 0 0 0 0 6
DASA 6 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 4 1 0 0 0 0 5
Blueprint Genetics 1 4 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 2 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 4 0 0 0 0 5
Molecular Genetics Lab, CHRU Brest 3 1 1 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 1 0 0 0 5
Suma Genomics 5 0 0 0 0 0 5
Athena Diagnostics 4 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 1 0 2 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 1 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 1 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 1 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 1 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Breakthrough Genomics, Breakthrough Genomics 4 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 0 0 0 0 3
Institute of Cellular and Molecular Medicine, Copenhagen University 3 0 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
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 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
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 0 0 2 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 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
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
Palindrome, Gene Kavoshgaran Aria 2 0 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
Solve-RD Consortium 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
ITMI 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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 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, National Institute of Health 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
Institute of Human Genetics, University Hospital of Duesseldorf 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
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
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 Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 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
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1
Inter University Centre for Biomedical Research and Super Speciality Hospital, Mahatma Gandhi University 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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