ClinVar Miner

Variants in gene RBFOX1

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Minimum submission review status: Collection method:
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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
7 13 296 188 39 1 537

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Idiopathic generalized epilepsy 0 0 171 165 16 0 352
not provided 0 3 54 5 19 1 82
See cases 4 0 52 13 5 0 74
Inborn genetic diseases 0 0 20 0 0 0 20
RBFOX1-related condition 0 0 1 14 0 0 15
not specified 0 0 9 1 1 0 11
Schizophrenia 0 5 0 0 0 0 5
Childhood epilepsy with centrotemporal spikes 3 0 0 0 0 0 3
Undetermined early-onset epileptic encephalopathy 0 2 0 0 0 0 2
Abnormal esophagus morphology 0 0 0 1 0 0 1
Autism 0 1 0 0 0 0 1
Autism spectrum disorder 0 0 1 0 0 0 1
Global developmental delay; Hearing impairment 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 171 168 15 0 354
ISCA site 1 0 0 36 5 0 0 41
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 26 0 0 0 26
Bionano Laboratories 0 0 21 0 0 0 21
Ambry Genetics 0 0 20 0 0 0 20
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 16 0 16
ISCA site 4 1 0 9 6 0 0 16
PreventionGenetics, part of Exact Sciences 0 0 1 14 0 0 15
GeneDx 1 1 9 0 2 0 13
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 8 0 0 0 8
Athena Diagnostics Inc 0 0 1 2 3 0 6
Department of Psychiatry, Nagoya University 0 6 0 0 0 0 6
ISCA Site 6 1 0 0 2 3 0 6
CeGaT Center for Human Genetics Tuebingen 0 2 2 1 1 0 6
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 3 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
ISCA site 2 0 0 0 0 1 0 1
ISCA site 8 1 0 0 0 0 0 1
Cytogenetics Laboratory, University of Washington 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 0 1
Geschwind lab, University of California Los Angeles 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1

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