ClinVar Miner

Variants studied for autosomal recessive ocular albinism

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 other not provided total
64 24 7 1 3 1 2 88

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
TYR 64 24 7 1 3 1 2 88

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Genetic Services Laboratory, University of Chicago 28 9 0 0 0 1 0 38
OMIM 34 0 0 0 1 0 0 35
Fulgent Genetics,Fulgent Genetics 8 4 2 0 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 2 0 0 0 0 7
Baylor Genetics 4 0 2 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 0 0 0 0 0 6
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 6 0 0 0 0 0 0 6
Center of Medical Genetics,Central South University 2 3 0 0 0 0 0 5
Mendelics 2 0 0 1 1 0 0 4
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 2 4
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 0 0 0 0 0 0 3
GeneReviews 0 0 0 0 2 0 0 2
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 1

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