ClinVar Miner

Variants studied for oculocutaneous albinism type 1A

Included ClinVar conditions (7):
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
82 61 20 6 3 4 140

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TYR 82 61 19 6 3 4 139
ZDHHC15 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 44 20 6 3 1 0 74
Genetic Services Laboratory, University of Chicago 28 9 0 0 0 0 37
OMIM 34 0 0 0 1 0 35
Fulgent Genetics, Fulgent Genetics 13 6 7 2 0 0 28
Juno Genomics, Hangzhou Juno Genomics, Inc 13 1 0 0 0 0 14
MGZ Medical Genetics Center 7 5 1 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 4 1 4 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 2 0 0 0 7
3billion 6 1 0 0 0 0 7
Baylor Genetics 4 1 2 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 0 0 0 0 6
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 6 0 0 0 0 0 6
Mendelics 3 0 0 1 1 0 5
Center of Medical Genetics, Central South University 2 3 0 0 0 0 5
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 2 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
Science and Research Branch, Islamic Azad University, Islamic Azad University 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 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
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 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
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 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
New York Genome Center 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 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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