ClinVar Miner

Variants in gene combination CYP1B1, LOC128772254

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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
14 9 15 20 6 1 54

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital glaucoma 12 0 4 15 6 0 37
not provided 5 4 2 3 3 0 14
Glaucoma 3A 2 1 4 2 3 1 12
Anterior segment dysgenesis 6 6 2 0 0 3 0 11
not specified 0 0 5 3 5 0 11
Inborn genetic diseases 0 0 4 1 0 0 5
Irido-corneo-trabecular dysgenesis 0 0 3 0 2 0 5
Primary congenital glaucoma 2 2 0 0 0 0 4
Glaucoma 3A; Anterior segment dysgenesis 6 2 1 0 0 0 0 3
CYP1B1-related disorder 2 0 0 0 0 0 2
Anterior segment dysgenesis 1 0 0 0 0 0 1
Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 0 4 15 6 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 5 3 1 0 13
GeneDx 3 3 1 0 3 0 10
Baylor Genetics 6 2 0 0 0 0 8
Illumina Laboratory Services, Illumina 0 0 3 2 2 0 6
Ambry Genetics 0 0 4 1 0 0 5
Eurofins Ntd Llc (ga) 0 0 1 0 4 0 5
PreventionGenetics, part of Exact Sciences 2 0 0 0 2 0 4
Fulgent Genetics, Fulgent Genetics 2 1 0 1 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 1 0 4
Revvity Omics, Revvity 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 0 2
3billion 1 1 0 0 0 0 2
OMIM 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Laboratoire de Génétique et de Physiologie Neuroendocrinienne, Faculté des Sciences 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 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

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