ClinVar Miner

Variants studied for Glaucoma 3A

Coded as:
Minimum submission review status: Collection method:
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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
28 14 94 10 14 5 157

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
CYP1B1 23 13 90 8 11 4 142
CYP1B1, LOC128772254 2 1 4 2 3 1 12
CPAMD8 1 0 0 0 0 0 1
LTBP2 1 0 0 0 0 0 1
PXDN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 89 10 11 0 112
OMIM 15 0 0 0 0 0 15
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
Baylor Genetics 3 1 1 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 1 0 1 0 5
3billion 3 2 0 0 0 0 5
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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 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
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 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

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