ClinVar Miner

Variants studied for Oculocutaneous albinism type 1A

Coded as:
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 not provided total
76 67 14 8 3 1 140

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TYR 76 66 13 8 3 1 138
DRD5, SLC2A9 0 0 1 0 0 0 1
NOX4, TYR 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 19 0 0 0 0 19
MGZ Medical Genetics Center 6 4 1 0 0 0 11
Laboratoire de Génétique Moléculaire, CHU Bordeaux 5 0 1 3 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 3 1 4 0 0 0 8
3billion 6 1 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 2 0 0 0 7
Center of Medical Genetics, Central South University 2 3 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 2 1 0 0 5
Mendelics 3 0 0 1 1 0 5
Baylor Genetics 3 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 0 0 0 0 0 3
Molecular Genetics, University Hospital Bordeaux 1 2 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 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
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 2
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 2 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Department of Dermatology, Faculty of Medicine, Yamagata University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Laboratorio de Genetica Humana; Universidad de los Andes 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 1
Science and Research Branch, Islamic Azad University, Islamic Azad University 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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