ClinVar Miner

Variants studied for Vissers-Bodmer syndrome

Included ClinVar conditions (2):
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
11 8 26 0 7 51

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CNOT1 11 8 26 7 51

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 7 7
OMIM 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
New York Genome Center 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 1

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