ClinVar Miner

Variants in gene ARID1B

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 other not provided total
470 190 938 902 268 1 68 2463

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 250 46 589 747 257 0 2 1736
Inborn genetic diseases 62 7 204 235 44 0 0 552
Coffin-Siris syndrome 1 200 115 121 22 39 0 11 480
ARID1B-Related Disorder 11 3 46 102 17 0 0 179
not specified 1 1 56 69 24 0 0 145
ARID1B-related BAFopathy 44 2 0 0 0 0 0 46
Intellectual disability 8 1 3 7 0 0 0 19
Coffin-Siris syndrome 2 6 6 2 0 0 1 17
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 12 12
See cases 3 4 1 1 0 0 0 9
Acute myeloid leukemia 0 0 0 0 0 0 8 8
Gastric cancer 0 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 0 6 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 6 6
Neoplasm 0 4 1 0 0 0 0 5
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Moderate intellectual disability 4 0 0 0 0 0 0 4
Coffin Siris/Intellectual Disability 2 0 2 0 0 0 0 4
Sarcoma 0 0 0 0 0 0 4 4
Thymoma 0 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 0 3 3
Medulloblastoma WNT activated 0 3 0 0 0 0 0 3
Neurodevelopmental disorder 0 1 2 0 0 0 0 3
Severe combined immunodeficiency due to DCLRE1C deficiency 2 1 0 0 0 0 0 3
Squamous cell lung carcinoma 0 0 0 0 0 0 3 3
Autism spectrum disorder 0 2 0 0 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Developmental disorder 0 0 1 1 0 0 0 2
Familial cancer of breast 0 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 0 2 2
Global developmental delay 1 1 0 0 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 0 2 2
Marfanoid habitus and intellectual disability 0 2 0 0 0 0 0 2
Microcephaly 1 0 1 0 0 0 0 2
Neurodevelopmental delay 1 0 1 0 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 2 2
Adrenal cortex carcinoma 0 1 0 0 0 0 0 1
Astrocytoma 0 0 1 0 0 0 0 1
Autosomal dominant ARID1B-related disorders 1 0 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 0 1 1
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of 0 1 0 0 0 0 0 1
Corpus callosum, agenesis of; Hypertrichosis; Global developmental delay; Neonatal hypotonia; Nail dysplasia 1 0 0 0 0 0 0 1
Epilepsy 0 0 0 1 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 0 1 1
Hypertrichosis; Global developmental delay; Bilateral cryptorchidism; Delayed speech and language development; Intellectual disability; Abnormal speech pattern 0 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Medulloblastoma 0 0 0 0 0 1 0 1
Melanoma 0 0 0 0 0 0 1 1
Metabolic disease 0 0 1 0 0 0 0 1
Neurodevelopmental abnormality 1 0 0 0 0 0 0 1
Neurofibromatosis, type 1 0 0 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 0 0 1
Noonan syndrome 1 0 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 0 1
Seizure; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight 0 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
Wiedemann-Steiner syndrome 0 1 0 0 0 0 0 1
intellectual deficiency; dysmorphy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 157
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 83 9 326 596 191 0 0 1205
GeneDx 151 15 220 100 110 0 0 596
Ambry Genetics 62 7 204 235 44 0 0 552
CeGaT Center for Human Genetics Tuebingen 21 7 49 162 19 0 0 258
PreventionGenetics, part of Exact Sciences 7 3 45 102 17 0 0 174
Genetic Services Laboratory, University of Chicago 18 2 34 50 20 0 0 124
Genome-Nilou Lab 34 4 12 11 39 0 0 100
Baylor Genetics 45 5 14 0 0 0 0 64
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 55 55
3billion 24 24 3 1 0 0 0 52
Revvity Omics, Revvity 5 2 40 0 0 0 0 47
Breakthrough Genomics, Breakthrough Genomics 0 1 5 28 0 0 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 26 2 3 0 0 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 19 5 0 0 0 26
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 14 5 1 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 6 7 6 0 0 0 0 19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 14 5 0 0 0 0 0 19
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 3 9 3 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 1 8 1 0 0 0 15
Fulgent Genetics, Fulgent Genetics 3 0 7 5 0 0 0 15
Mendelics 8 0 4 1 2 0 0 15
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 1 4 0 0 0 0 14
New York Genome Center 1 1 11 0 0 0 0 13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 8 0 0 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 2 3 0 0 0 12
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 11 0 0 0 12
OMIM 12 0 0 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 0 5 3 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 2 0 0 0 10
Gharavi Laboratory, Columbia University 0 0 10 0 0 0 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 9 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 1 6 0 0 0 9
Clinical Genetics and Genomics, Karolinska University Hospital 8 1 0 0 0 0 0 9
Diagnostic Laboratory, Strasbourg University Hospital 7 0 1 1 0 0 0 9
Illumina Laboratory Services, Illumina 5 0 4 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 6 1 0 0 8
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 7 1 0 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 2 2 3 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 4 0 0 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 2 2 2 0 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 6 0 0 0 0 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 1 1 1 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 0 6
Eurofins Ntd Llc (ga) 4 0 2 0 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 6 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 3 0 0 6
MVZ Martinsried, Medicover Genetics 4 1 1 0 0 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 3 1 0 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 4 1 0 0 0 0 5
Dubai Health Genomic Medicine Center, Dubai Health 3 1 0 1 0 0 0 5
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 3 2 0 0 0 0 0 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 1 1 1 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 5 0 0 0 0 0 0 5
Institute of Human Genetics, Cologne University 3 2 0 0 0 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 3 1 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 1 0 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 2 1 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 3 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 0 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 4 0 0 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 1 3 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 0 4
MGZ Medical Genetics Center 1 2 1 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 1 2 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 2 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 2 1 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 0 3
Laboratory of Molecular Genetics, CHU Rennes 0 3 0 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 1 2 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 1 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 0 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 2 0 0 0 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 1 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 0 2
Dasa 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 1 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 2 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 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
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 1
Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston 0 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 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 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 0 1
Yan Lab, Department of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, The Children’s Hospital of Zhejiang University School of Medicine 1 0 0 0 0 0 0 1

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