ClinVar Miner

Variants in gene FOXL2

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
127 47 77 19 15 11 269

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Blepharophimosis, ptosis, and epicanthus inversus syndrome 77 30 16 2 3 10 127
not provided 42 10 28 8 14 0 99
Inborn genetic diseases 2 0 33 0 0 0 35
FOXL2-related disorder 3 0 1 9 3 0 16
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I 11 0 0 0 0 0 11
Blepharophimosis, ptosis, and epicanthus inversus syndrome; Premature ovarian failure 3 4 5 2 0 0 0 11
Premature ovarian failure 3 6 2 1 0 0 0 8
not specified 0 0 0 2 5 1 8
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II 7 0 0 0 0 0 7
Genetic non-acquired premature ovarian failure 1 3 0 0 0 0 4
See cases 1 0 2 0 0 0 3
Blepharophimosis 1 0 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome 1 0 0 0 0 0 1
Duane retraction syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 36 7 23 7 10 0 83
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 38 8 13 1 2 0 62
Wessex Regional Genetics Laboratory, Salisbury District Hospital 34 15 1 0 0 0 50
Ambry Genetics 2 0 33 0 0 0 35
OMIM 20 0 0 0 0 0 20
PreventionGenetics, part of Exact Sciences 3 0 1 10 6 0 20
GeneDx 9 1 6 0 1 0 17
GeneReviews 1 0 0 0 1 10 12
Juno Genomics, Hangzhou Juno Genomics, Inc 6 3 1 0 0 0 10
CeGaT Center for Human Genetics Tuebingen 2 1 0 3 2 0 8
3billion 2 3 1 0 0 0 6
Fulgent Genetics, Fulgent Genetics 3 1 1 0 0 0 5
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 1 3 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 3 0 4
Mendelics 1 0 1 0 1 0 3
Eurofins Ntd Llc (ga) 1 0 0 0 2 0 3
Center for Medical Genetics Ghent, University of Ghent 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Institute of Reproductive and Stem Cell Engineering, Central South University 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
ITMI 0 0 0 0 0 1 1
ISCA site 14 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 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.