ClinVar Miner

Variants studied for Axenfeld-Rieger syndrome type 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
103 29 345 128 23 1 620

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FOXC1 80 24 326 121 22 0 565
FOXC1, LOC129995601 17 5 17 7 1 0 46
IFT140 0 0 2 0 0 0 2
​intergenic 1 0 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 0 1
BPHL, C6orf201, CDYL, DUSP22, ECI2, EXOC2, FAM217A, FAM50B, FARS2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, KU-MEL-3, LINC01600, LYRM4, MYLK4, NQO2, PPP1R3G, PRP4K, PSMG4, PXDC1, RIPK1, RPP40, SERPINB1, SERPINB6, SERPINB9, SLC22A23, TUBB2A, TUBB2B, WRNIP1 0 0 0 0 0 1 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 0 1
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B 1 0 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 1
FOXC1, LOC129995600, LOC129995601 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 64 5 288 124 23 0 504
Fulgent Genetics, Fulgent Genetics 0 2 102 5 0 0 109
Genomics, Genetics and Epigenetics Laboratory, Medical College of Wisconsin 20 5 0 0 0 0 25
Genetics and Molecular Pathology, SA Pathology 13 1 3 0 0 0 17
3billion 1 5 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
DBGen Ocular Genomics 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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