ClinVar Miner

Variants in gene IRF2BPL

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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
35 41 223 97 23 390

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 15 14 109 64 16 211
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 21 19 42 3 6 89
Inborn genetic diseases 4 2 63 17 1 87
IRF2BPL-related disorder 0 9 10 25 6 50
not specified 0 0 6 0 3 9
See cases 0 0 2 0 0 2
Autism spectrum disorder 1 0 0 0 0 1
Developmental disorder 0 0 0 1 0 1
Global developmental delay 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 1
Spastic paraplegia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 10 9 86 2 6 113
CeGaT Center for Human Genetics Tuebingen 2 5 15 58 9 89
Ambry Genetics 4 2 63 17 1 87
PreventionGenetics, part of Exact Sciences 0 4 10 25 6 45
New York Genome Center 0 2 8 0 0 10
Revvity Omics, Revvity 0 0 8 0 0 8
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 3 8
OMIM 7 0 0 0 0 7
Baylor Genetics 0 1 6 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 1 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 4 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 4 0 0 6
Undiagnosed Diseases Network, NIH 1 5 0 0 0 6
3billion 2 3 0 1 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 3 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 1 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Mendelics 2 0 1 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 1 2 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 1 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1 0 1 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 2
Wang lab, Dept of pediatrics, Fujian Medical University Union Hospital 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1

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