ClinVar Miner

Variants studied for GPR143-related foveal hypoplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
33 13 8 2 1 54

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GPR143 33 13 8 2 1 54

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 13 0 0 0 0 13
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 5 2 1 0 0 8
3billion 1 2 2 0 0 5
Fulgent Genetics, Fulgent Genetics 0 3 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1

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