ClinVar Miner

Variants studied for Axenfeld-Rieger syndrome type 3

Coded as:
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 total
90 17 208 114 22 447

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FOXC1 69 13 197 107 21 404
FOXC1, LOC129995601 16 4 11 7 1 38
​intergenic 1 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SLX9, SPATC1L, YBEY 1 0 0 0 0 1
BPHL, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, PSMG4, RIPK1, SERPINB1, SERPINB6, SERPINB9, SLC22A23, TUBB2A, TUBB2B, WRNIP1 1 0 0 0 0 1
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B 1 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 51 4 202 114 22 393
Human Developmental Genetics Laboratory, Medical College of Wisconsin 20 5 0 0 0 25
Genetics and Molecular Pathology, SA Pathology 13 1 3 0 0 17
OMIM 5 0 0 0 0 5
3billion 1 2 0 0 0 3
DBGen Ocular Genomics 0 2 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.