ClinVar Miner

Variants studied for Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Coded as:
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
24 22 47 2 6 99

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IRF2BPL 21 18 40 2 5 84
IRF2BPL, LOC107984638 3 4 7 0 1 15

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
New York Genome Center 0 2 11 0 0 13
Revvity Omics, Revvity 0 0 10 0 0 10
Baylor Genetics 0 1 7 0 0 8
OMIM 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
3billion, Medical Genetics 1 3 0 1 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 1 1 2 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 3 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 3
Wang lab, Dept of pediatrics, Fujian Medical University Union Hospital 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Mendelics 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 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
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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