ClinVar Miner

Variants studied for Axenfeld-Rieger syndrome type 3

Included ClinVar conditions (2):
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 18 212 115 22 452

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 total
FOXC1 69 14 201 108 21 409
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 51 4 202 114 22 393
Fulgent Genetics, Fulgent Genetics 0 0 25 2 0 27
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
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
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

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