ClinVar Miner

Variants studied for CYP1B1-related glaucoma with or without anterior segment dysgenesis

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
63 71 313 32 29 11 489

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LTBP2 6 6 200 18 13 4 242
CYP1B1 46 59 105 10 12 5 216
CYP1B1, LOC128772254 8 4 4 3 4 1 20
TEK 0 2 4 1 0 1 8
CPAMD8 1 0 0 0 0 0 1
CYP1B1, LOC110599580, LOC128772254, LOC129933516, RMDN2 1 0 0 0 0 0 1
PXDN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 262 25 22 0 311
Fulgent Genetics, Fulgent Genetics 17 15 32 1 3 0 68
Baylor Genetics 30 31 3 0 0 0 64
ClinGen Glaucoma Variant Curation Expert Panel 26 10 11 4 8 0 59
OMIM 24 0 0 0 0 0 24
Department of Pathology and Laboratory Medicine, Sinai Health System 1 5 7 2 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 2 0 0 12
3billion 5 4 1 1 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 2 2 0 1 0 9
Genome-Nilou Lab 1 1 0 0 6 0 8
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 4 4 0 0 0 0 8
Institute of Medical Molecular Genetics, University of Zurich 6 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Department of Genetics, Sultan Qaboos University Hospital 1 2 0 1 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 1 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 0 1 0 0 0 4
DBGen Ocular Genomics 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Laboratoire de Génétique et de Physiologie Neuroendocrinienne, Faculté des Sciences 0 0 0 0 0 3 3
Moosajee Lab, UCL Institute of Ophthalmology 1 2 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Variantyx, Inc. 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
FullGenomics, FullGenomics SL 0 1 0 0 0 0 1
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1

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