ClinVar Miner

Variants in gene ARFGEF2

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 not provided total
12 9 351 261 103 1 667

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 4 4 161 221 96 0 463
Periventricular heterotopia with microcephaly, autosomal recessive 7 3 135 3 13 1 161
not specified 0 0 55 36 15 0 101
Inborn genetic diseases 1 0 60 1 0 0 62
ARFGEF2-related condition 0 0 1 34 2 0 37
Periventricular laminar heterotopia 0 1 5 1 0 0 7
Intellectual disability 0 0 1 3 0 0 4
Global developmental delay 0 0 1 0 0 0 1
Global developmental delay; Seizure; Hydrocephalus 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 1 102 160 30 0 294
GeneDx 1 1 45 82 81 0 210
Illumina Laboratory Services, Illumina 0 0 127 4 8 0 139
Genetic Services Laboratory, University of Chicago 1 0 62 20 6 0 89
Ambry Genetics 1 0 60 1 0 0 62
PreventionGenetics, part of Exact Sciences 0 0 1 36 8 0 45
CeGaT Center for Human Genetics Tuebingen 2 0 3 9 3 0 17
Athena Diagnostics Inc 0 0 9 1 5 0 15
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 0 0 0 11
Eurofins Ntd Llc (ga) 0 0 8 0 2 0 10
Revvity Omics, Revvity 1 1 4 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Baylor Genetics 0 0 4 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 4
OMIM 2 0 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Department of Molecular Bıology and Genetics, Istanbul Technical University 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 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.