ClinVar Miner

Variants studied for GPR143-related foveal hypoplasia

Included ClinVar conditions (3):
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
22 6 4 1 1 33

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 22 6 4 1 1 33

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 13 0 0 0 0 13
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 2
3billion 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1

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