ClinVar Miner

Variants in gene ARFGEF2

Minimum submission review status: Collection method:
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Gene type:
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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
7 6 201 79 64 1 314

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Heterotopia, periventricular, autosomal recessive 5 1 133 3 9 1 151
not provided 1 3 39 40 50 0 123
not specified 0 0 47 40 15 0 93
Periventricular 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; Seizures; Hydrocephalus 0 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 131 4 9 0 144
GeneDx 1 1 16 31 40 0 89
Genetic Services Laboratory, University of Chicago 1 0 54 16 6 0 77
Invitae 0 0 0 35 18 0 53
Athena Diagnostics Inc 0 0 10 0 5 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 8 0 2 0 10
PreventionGenetics, PreventionGenetics 0 0 0 2 6 0 8
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
Mendelics 2 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Broad Institute Rare Disease Group, Broad Institute 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

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