ClinVar Miner

Variants in gene RBFOX1

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
13 13 215 73 40 1 351

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Idiopathic generalized epilepsy 0 0 86 41 17 0 144
See cases 8 1 77 18 5 0 109
not provided 0 2 52 17 21 1 93
Schizophrenia 0 6 0 0 0 0 6
Rolandic epilepsy 4 0 0 0 0 0 4
Undetermined early-onset epileptic encephalopathy 0 2 0 0 0 0 2
not specified 0 0 1 0 1 0 2
Abnormality of esophagus morphology 0 0 0 1 0 0 1
Autism spectrum disorder 0 0 1 0 0 0 1
Autistic disorder of childhood onset 0 1 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 1
Global developmental delay; Hearing impairment 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 86 53 17 0 156
ISCA site 1 0 0 51 6 0 0 57
GeneDx 3 1 15 2 1 0 22
Lineagen, Inc 0 0 21 0 0 0 21
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 20 0 0 0 20
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 16 0 16
ISCA site 4 1 0 9 6 0 0 16
Athena Diagnostics Inc 0 0 2 2 5 0 9
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 1 6 1 0 0 9
ISCA site 6 2 0 1 3 3 0 9
Department of Psychiatry,Nagoya University 0 7 0 0 0 0 7
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 4 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 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
Mendelics 0 0 0 0 1 0 1
ISCA site 15 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 and Genomics 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
Genomic Center,National Cancer Institute 1 0 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 0 1 0 0 0 0 1

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