ClinVar Miner

Variants studied for Tyrosinase-negative oculocutaneous albinism

Coded as:
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 not provided total
69 46 12 4 3 1 110

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 not provided total
TYR 69 46 12 4 3 1 110

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 43 20 6 3 1 0 73
Genetic Services Laboratory, University of Chicago 28 9 0 0 0 0 37
OMIM 29 0 0 0 1 0 30
MGZ Medical Genetics Center 6 4 1 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 3 1 4 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 2 0 0 0 7
3billion 6 1 0 0 0 0 7
Mendelics 3 0 0 1 1 0 5
Center of Medical Genetics, Central South University 2 3 0 0 0 0 5
Baylor Genetics 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Laboratorio de Genetica Humana; Universidad de los Andes 0 1 0 0 0 0 1
Science and Research Branch, Islamic Azad University, Islamic Azad University 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 1

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