ClinVar Miner

Variants studied for oculocerebrofacial syndrome, Kaufman type

Included ClinVar conditions (1):
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
26 10 12 0 1 49

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
UBE3B 26 10 12 1 49

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 8 0 0 0 8
Baylor Genetics 1 0 4 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 0 4
3billion 3 1 0 0 4
Revvity Omics, Revvity 2 0 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 1
Mendelics 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 1

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