ClinVar Miner

Variants in gene FOXG1

See also:
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
82 30 73 96 17 254

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Rett syndrome, congenital variant 39 15 34 18 5 105
not provided 45 14 35 2 0 95
not specified 0 0 9 77 15 93
History of neurodevelopmental disorder 1 0 4 26 1 32
Inborn genetic diseases 8 0 2 0 0 10
See cases 1 0 0 1 0 2
Aplasia/Hypoplasia of the corpus callosum; Intellectual disability, severe; Congenital microcephaly 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 1
Severe intellectual deficiency 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 38 12 11 73 11 145
Invitae 11 2 23 15 5 56
Ambry Genetics 9 0 6 26 1 42
Genetic Services Laboratory, University of Chicago 11 6 9 8 5 39
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 18 7 3 31
RettBASE 25 0 1 0 2 28
Athena Diagnostics Inc 0 0 4 3 1 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 1 0 8
OMIM 7 0 0 0 0 7
Center for Human Genetics, Inc 0 1 3 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 1 0 2 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 2 0 0 4
HudsonAlpha Institute for Biotechnology 2 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 1
PreventionGenetics 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Fulgent Genetics 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
ISCA site 4 0 0 0 1 0 1
ISCA site 6 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 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.