ClinVar Miner

Variants studied for Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

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 not provided total
33 52 46 2 6 1 137

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBXO11 19 41 32 2 1 1 94
FBXO11, MSH6 14 9 8 0 5 0 35
FBXO11, LOC100506235 0 2 6 0 0 0 8

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Institute of Human Genetics, University of Leipzig Medical Center 19 25 5 0 0 0 49
Baylor Genetics 0 2 7 0 0 0 9
Revvity Omics, Revvity 0 0 7 0 0 0 7
OMIM 6 0 0 0 0 0 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 5 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Institute of Human Genetics, University of Goettingen 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
3billion, Medical Genetics 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.