ClinVar Miner

Variants studied for oculocutaneous albinism type 2

Included ClinVar conditions (4):
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
55 74 108 23 24 2 246

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OCA2 52 68 97 18 23 2 222
MC1R 0 6 11 5 1 0 21
LOC132090298, LOC132090299, OCA2 2 0 0 0 0 0 2
ATP5ME, PDE6B 1 0 0 0 0 0 1
LOC132090299, OCA2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 2 72 5 21 0 102
Genome-Nilou Lab 7 13 21 13 9 0 63
Fulgent Genetics, Fulgent Genetics 6 6 19 6 3 0 40
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 21 1 0 0 0 22
Genetic Services Laboratory, University of Chicago 13 7 0 0 0 0 20
3billion 3 9 6 0 0 0 18
OMIM 12 0 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 4 2 0 0 0 10
MGZ Medical Genetics Center 3 4 2 0 0 0 9
Center of Medical Genetics, Central South University 3 6 0 0 0 0 9
Centre for Human Genetics, University of Kinshasa 7 0 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 2 2 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
Mendelics 2 0 0 0 2 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 3 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
Science and Research Branch, Islamic Azad University, Islamic Azad University 2 1 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 3
Molecular Genetics, University Hospital Bordeaux 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 1 0 0 0 0 1
Genetic Disease Research Branch / Genetics Development and Disease Section, National Human Genome Research Institute 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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