ClinVar Miner

Variants studied for X-linked complex neurodevelopmental disorder

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
834 174 649 271 91 3 1948

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MECP2 402 36 140 14 18 1 580
PCDH19 128 44 235 81 17 0 494
CDKL5 218 55 115 49 26 1 445
FOXG1 59 30 65 80 17 1 242
ARHGEF9 12 8 62 35 4 0 121
CDKL5, RS1 6 0 29 12 9 0 53
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 0 3
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 1 0 0 0 2
IRAK1, MECP2, MIR718 2 0 0 0 0 0 2
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 0 0 1 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
FOXG1, WDFY1 1 0 0 0 0 0 1
GABBR2 1 0 0 0 0 0 1
RHOBTB2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 203 36 440 247 70 0 996
RettBASE 453 15 126 0 0 0 594
Genetic Services Laboratory, University of Chicago 82 12 21 0 0 0 115
Mendelics 30 13 4 6 7 0 60
OMIM 57 0 0 0 0 0 57
Integrated Genetics/Laboratory Corporation of America 19 6 5 2 6 0 38
Institute of Human Genetics, University of Leipzig Medical Center 18 7 12 1 0 0 38
Baylor Genetics 8 6 15 0 0 0 29
Génétique des Maladies du Développement, Hospices Civils de Lyon 17 8 2 1 1 0 29
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 13 7 5 2 1 0 28
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 20 3 5 0 0 0 28
Center for Human Genetics, Inc,Center for Human Genetics, Inc 9 4 6 4 0 0 23
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 23
Fulgent Genetics,Fulgent Genetics 8 0 10 0 0 0 18
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 12 2 0 0 0 14
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 0 1 1 1 0 13
Institute of Human Genetics, Klinikum rechts der Isar 9 4 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 1 3 1 0 12
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 11
Undiagnosed Diseases Network,NIH 10 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 9 1 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 9 0 0 0 9
GeneReviews 8 0 0 0 0 0 8
Service de Génétique Moléculaire,Hôpital Robert Debré 3 3 1 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 2 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 1 0 0 0 7
Blueprint Genetics 1 5 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 2 0 0 0 0 6
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 2 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 2 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 0 0 0 0 5
Athena Diagnostics Inc 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
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 1 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 1 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 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
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 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
New York Genome Center 0 0 1 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 1 0 0 0 0 0 1

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