ClinVar Miner

Variants in gene OCA2

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 affects not provided total
38 39 66 27 21 3 2 166

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Tyrosinase-positive oculocutaneous albinism 29 19 7 0 0 0 2 56
not provided 12 7 32 1 2 0 0 50
not specified 0 0 6 17 19 0 0 40
Oculocutaneous albinism 0 0 24 7 7 0 0 38
Nonsyndromic Oculocutaneous Albinism 0 14 0 0 0 0 0 14
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 3 4 1 0 0 0 0 7
Inborn genetic diseases 2 2 1 0 0 0 0 5
Albinism 0 4 0 0 0 0 0 4
Skin/hair/eye pigmentation, variation in, 1 0 0 0 0 0 3 0 3
See cases 0 0 0 2 0 0 0 2
Brown oculocutaneous albinism 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 30 7 7 0 0 46
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 22 2 12 0 0 44
Genetic Services Laboratory, University of Chicago 12 9 5 3 0 0 0 29
PreventionGenetics 0 0 0 10 17 0 0 27
GeneDx 6 5 9 4 0 0 0 24
OMIM 12 0 0 0 0 3 0 15
University of Washington Center for Mendelian Genomics,University of Washington 0 14 0 0 0 0 0 14
Center of Medical Genetics,Central South University 3 6 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 3 3 1 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 2 0 0 0 5
Ambry Genetics 2 2 1 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 0 0 0 0 4
Science and Research Branch, Islamic Azad University,Islamic Azad University 2 1 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 1 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 0 2
Lineagen Inc. 1 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.