ClinVar Miner

Variants studied for congenital glaucoma

Included ClinVar conditions (11):
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
43 6 298 29 31 55 444

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 0 181 15 11 0 213
CYP1B1 30 5 80 10 18 4 133
ASB10 4 0 0 0 0 51 51
CYP1B1, RMDN2 0 0 34 4 2 0 40
TEK 2 1 2 0 0 0 5
CYP1B1, LOC110599580 0 0 1 0 0 0 1
FASTKD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 1 279 25 24 0 330
Casey Eye Institute Glaucoma Genetics Lab 0 0 0 0 0 51 51
Invitae 10 0 7 4 8 0 29
OMIM 27 0 0 0 0 0 27
Baylor Genetics 5 1 1 0 0 0 7
Institute of Medical Molecular Genetics, University of Zurich 6 0 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 5 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 4 0 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 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
Nilou-Genome Lab 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 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
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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