ClinVar Miner

Variants in gene MECP2

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Minimum submission review status: Collection method:
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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 risk factor not provided total
678 275 589 522 298 3 106 1822

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Severe neonatal-onset encephalopathy with microcephaly 204 21 204 327 172 0 0 922
Rett syndrome 458 198 208 78 159 0 10 895
not provided 155 40 162 146 46 0 94 564
not specified 7 0 60 67 163 0 0 266
Inborn genetic diseases 37 10 41 29 23 0 0 140
MECP2-related condition 8 1 15 103 6 0 0 133
X-linked intellectual disability-psychosis-macroorchidism syndrome 31 3 23 3 0 0 0 56
Autism, susceptibility to, X-linked 3 8 3 25 1 0 3 0 38
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 13 2 7 12 1 0 0 35
History of neurodevelopmental disorder 0 0 3 7 12 0 0 22
Syndromic X-linked intellectual disability Lubs type 12 5 1 0 0 0 0 18
Intellectual disability 10 2 0 3 0 0 0 15
See cases 12 0 1 0 0 0 0 13
Neurodevelopmental delay 6 3 1 0 0 0 0 10
Angelman syndrome 7 0 2 0 0 0 0 9
MECP2-Related Disorders 6 0 0 0 0 0 0 6
Rett syndrome, zappella variant 4 0 0 0 0 0 0 4
Abnormality of the nervous system 3 0 0 0 0 0 0 3
Developmental disorder 0 1 2 0 0 0 0 3
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome 2 0 1 0 0 0 0 3
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 2 0 1 0 0 0 0 3
Angelman syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 2 0 0 0 0 0 0 2
Attention deficit hyperactivity disorder 1 0 0 1 0 0 0 2
Atypical Rett syndrome 2 0 0 0 0 0 0 2
Autism spectrum disorder 0 1 1 0 0 0 0 2
Neurodevelopmental disorder 2 0 0 0 0 0 0 2
Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome 0 1 1 0 0 0 0 2
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 1 0 1 0 0 0 0 2
Atypical behavior 0 1 0 0 0 0 0 1
Delayed speech and language development; Delayed gross motor development; Loss of ambulation 1 0 0 0 0 0 0 1
Epilepsy; Intellectual disability 0 1 0 0 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 0 0 1
Facial hypertrichosis; Congenital laryngomalacia; Dystonic disorder; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormal muscle fiber morphology; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission 0 1 0 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 0 1
Global developmental delay; Developmental regression 1 0 0 0 0 0 0 1
MECP2-Related Disorder 0 0 0 0 0 0 1 1
Microcephaly; Intellectual disability; Psychomotor retardation; Severe underweight in infancy childhood and adolescence 0 1 0 0 0 0 0 1
Motor delay; Micrognathia; Hearing impairment; Downslanted palpebral fissures; Microcephaly; Stenosis of the external auditory canal; Intellectual disability; Postnatal growth retardation 0 1 0 0 0 0 0 1
Non-syndromic X-linked intellectual disability 1 0 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 0 1
Seizure 1 0 0 0 0 0 0 1
Seizure; Absent speech; Developmental regression; Severe global developmental delay; Irregular respiration 1 0 0 0 0 0 0 1
Seizure; Intellectual disability 0 0 0 1 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 0 1
Stereotypic movement disorder; Delayed speech and language development; Delayed gross motor development; Bruxism 1 0 0 0 0 0 0 1
Syndromic X-linked intellectual disability Lubs type; Rett syndrome 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 142
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 198 18 197 328 172 0 0 913
RettBASE 368 1 170 1 150 0 92 749
Centre for Population Genomics, CPG 239 151 101 48 140 0 0 679
GeneDx 86 12 74 126 60 0 0 358
Ambry Genetics 37 10 44 36 35 0 0 162
PreventionGenetics, part of Exact Sciences 8 1 15 105 8 0 0 137
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 29 7 19 31 43 0 0 129
CeGaT Center for Human Genetics Tuebingen 28 8 37 54 0 0 0 127
Genetic Services Laboratory, University of Chicago 52 2 21 13 32 0 0 120
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 8 26 14 20 0 0 93
Eurofins Ntd Llc (ga) 18 3 22 6 32 0 0 81
OMIM 36 0 0 0 0 3 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 17 2 4 1 13 0 0 37
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 16 7 10 2 2 0 0 37
Revvity Omics, Revvity 16 3 17 0 0 0 0 36
Mendelics 19 4 5 3 5 0 0 36
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 8 0 1 14 5 0 0 28
Genome Diagnostics Laboratory, University Medical Center Utrecht 9 0 0 10 7 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 19 2 2 1 1 0 0 24
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 21 2 0 0 0 0 0 23
Athena Diagnostics Inc 9 0 3 1 9 0 0 22
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 16 0 1 1 4 0 0 22
Fulgent Genetics, Fulgent Genetics 5 0 5 10 1 0 0 21
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 12 1 1 1 6 0 0 21
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 8 0 7 0 3 0 0 18
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 11 5 1 1 0 0 0 18
Baylor Genetics 10 2 5 0 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 2 7 1 0 0 16
Quest Diagnostics Nichols Institute San Juan Capistrano 7 1 0 0 7 0 0 15
3billion 11 3 1 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 9 0 5 0 0 0 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9 0 1 1 2 0 0 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 2 1 2 0 0 0 12
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 4 0 1 4 3 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 1 2 0 0 0 12
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 6 3 3 0 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 0 3 2 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 4 2 4 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 2 1 0 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 1 0 0 0 0 0 9
Illumina Laboratory Services, Illumina 8 1 0 0 0 0 0 9
Diagnostic Laboratory, Strasbourg University Hospital 5 2 0 2 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 1 1 0 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 0 2 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 8 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 2 1 0 0 8
Clinical Genetics and Genomics, Karolinska University Hospital 7 1 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 0 2 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 1 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 3 0 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 1 0 0 0 0 0 7
MGZ Medical Genetics Center 5 0 1 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 0 1 0 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 5 1 0 0 0 0 0 6
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 3 1 0 0 0 0 6
DASA 6 0 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 3 2 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 0 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 5 0 0 0 0 0 0 5
New York Genome Center 1 0 3 1 0 0 0 5
Suma Genomics 4 1 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 2 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 2 2 0 0 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 1 0 0 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 1 0 0 0 0 0 4
Laboratoire Génétique Moléculaire, CHRU TOURS 1 3 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 1 1 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 1 1 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 0 3
Blueprint Genetics 1 2 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 3 0 0 0 0 0 0 3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 1 0 0 0 0 0 3
Eurofins-Biomnis 3 0 0 0 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
ISCA site 1 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 0 0 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 1 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 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 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
ISCA site 17 1 0 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 0 1
Research Centre for Medical Genetics, Federal State Budgetary Scientific Institution 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Beijing Children’s hospital, National Center for Children’s Health 0 1 0 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 1

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