ClinVar Miner

Variants in gene OCA2

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Gene type:
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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 affects not provided total
252 220 452 583 117 3 2 1403

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
not provided 221 92 321 561 114 0 0 1230
Tyrosinase-positive oculocutaneous albinism 55 70 101 18 23 0 2 231
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 43 55 1 0 0 3 0 102
not specified 0 0 60 16 21 0 0 94
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 23 57 10 1 2 0 0 91
OCA2-related disorder 19 15 13 21 3 0 0 71
Inborn genetic diseases 7 1 42 5 0 0 0 55
Oculocutaneous albinism 20 12 1 0 0 0 0 33
Nonsyndromic Oculocutaneous Albinism 0 14 0 0 0 0 0 14
Albinism 0 4 0 0 0 0 0 4
See cases 1 0 1 1 0 0 0 3
Albinism or congenital nystagmus 1 1 0 0 0 0 0 2
Brown oculocutaneous albinism 1 0 0 0 0 0 0 1
Diarrhea; Congenital nystagmus; Febrile seizure (within the age range of 3 months to 6 years); Oculocutaneous albinism; Respiratory tract infection; Motor delay, mild 0 0 1 0 0 0 0 1
Hypophosphatasia 1 0 0 0 0 0 0 1
Visual impairment 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 213 55 259 547 57 0 0 1131
GeneDx 30 26 38 5 67 0 0 166
Baylor Genetics 43 55 2 0 0 0 0 100
Illumina Laboratory Services, Illumina 2 2 67 5 21 0 0 97
PreventionGenetics, part of Exact Sciences 19 16 13 28 19 0 0 95
Fulgent Genetics, Fulgent Genetics 22 55 9 1 2 0 0 89
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 12 48 0 3 0 0 87
Genome-Nilou Lab 7 13 21 13 9 0 0 63
Breakthrough Genomics, Breakthrough Genomics 0 0 4 10 46 0 0 60
Ambry Genetics 7 1 42 5 0 0 0 55
Genetic Services Laboratory, University of Chicago 17 12 12 4 0 0 0 45
Eurofins Ntd Llc (ga) 7 1 22 2 12 0 0 44
CeGaT Center for Human Genetics Tuebingen 12 3 13 8 4 0 0 40
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 21 1 0 0 0 0 22
3billion 2 11 5 0 0 0 0 18
Juno Genomics, Hangzhou Juno Genomics, Inc 9 2 5 0 0 0 0 16
Revvity Omics, Revvity 3 7 5 0 0 0 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 13 0 0 0 0 15
University of Washington Center for Mendelian Genomics, University of Washington 0 14 0 0 0 0 0 14
OMIM 10 0 0 0 0 3 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 4 2 0 0 0 0 10
MGZ Medical Genetics Center 3 4 2 0 0 0 0 9
Center of Medical Genetics, Central South University 3 6 0 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 2 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 2 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 3 1 0 0 0 7
Centre for Human Genetics, University of Kinshasa 7 0 0 0 0 0 0 7
Clinical Genetics, Academic Medical Center 3 0 2 0 1 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 2 2 0 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 2 2 0 0 0 0 6
Molecular Genetics, University Hospital Bordeaux 3 3 0 0 0 0 0 6
Mendelics 2 0 0 0 2 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 3 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 1 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 2 0 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 0 2
Science and Research Branch, Islamic Azad University, Islamic Azad University 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 1 1 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 1 0 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 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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