ClinVar Miner

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

Included ClinVar conditions (10):
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 not provided total
54 51 300 28 27 7 447

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LTBP2 6 3 198 18 13 1 236
CYP1B1 39 45 98 8 11 5 191
CYP1B1, LOC128772254 7 3 4 2 3 1 18
CPAMD8 1 0 0 0 0 0 1
PXDN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 263 25 22 0 312
Baylor Genetics 30 31 3 0 0 0 64
Fulgent Genetics, Fulgent Genetics 10 4 32 1 3 0 50
OMIM 24 0 0 0 0 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 2 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 2 0 1 0 8
Genome-Nilou Lab 1 1 0 0 6 0 8
Institute of Medical Molecular Genetics, University of Zurich 6 0 0 0 0 0 6
3billion 3 2 0 1 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
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 4 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 2 0 1 0 0 4
Laboratoire de Génétique et de Physiologie Neuroendocrinienne, Faculté des Sciences 0 0 0 0 0 3 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Moosajee Lab, UCL Institute of Ophthalmology 1 2 0 0 0 0 3
DBGen Ocular Genomics 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 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
FullGenomics, FullGenomics SL 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 1 0 0 0 0 1

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