ClinVar Miner

Variants in gene GPR143

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Minimum submission review status: Collection method:
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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
88 37 168 102 37 44 421

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 68 26 140 96 36 44 380
Inborn genetic diseases 2 0 34 1 0 0 37
Ocular albinism, type I 19 7 3 1 1 0 29
not specified 0 0 6 5 8 0 17
GPR143-related disorder 2 1 7 5 0 0 15
Nystagmus 6, congenital, X-linked 4 1 2 0 1 0 8
Ocular albinism, type I; Nystagmus 6, congenital, X-linked 0 3 1 1 0 0 5
Albinism 0 2 0 0 0 0 2
Albinism or congenital nystagmus 1 0 0 0 0 0 1
GPR143-related foveal hypoplasia 1 0 0 0 0 0 1
Nystagmus; Reduced eye contact; Ocular albinism 0 1 0 0 0 0 1
Ocular albinism 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 58 18 132 89 29 0 326
Retina International 0 0 0 0 0 44 44
Ambry Genetics 2 0 34 1 0 0 37
GeneDx 9 5 9 0 8 0 31
PreventionGenetics, part of Exact Sciences 2 1 7 6 3 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 1 3 10 0 14
OMIM 13 0 0 0 0 0 13
CeGaT Center for Human Genetics Tuebingen 1 3 3 5 0 0 12
Genetic Services Laboratory, University of Chicago 2 1 2 3 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 4 1 0 0 6
Clinical Genetics, Academic Medical Center 1 0 0 0 3 0 4
Fulgent Genetics, Fulgent Genetics 0 3 1 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 2 0 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 2 0 3
3billion 0 2 1 0 0 0 3
Revvity Omics, Revvity 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 1 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1

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