ClinVar Miner

Variants studied for Tyrosinase-positive oculocutaneous albinism

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
29 25 7 0 0 2 62

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
OCA2 29 19 7 2 56
MC1R 0 6 0 0 6

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Genetic Services Laboratory, University of Chicago 12 9 0 0 21
OMIM 12 0 0 0 12
Center of Medical Genetics,Central South University 3 6 0 0 9
Illumina Clinical Services Laboratory,Illumina 2 0 6 0 8
Yale Center for Mendelian Genomics,Yale University 0 6 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 3
Science and Research Branch, Islamic Azad University,Islamic Azad University 2 1 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 1 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 2 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 1

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