ClinVar Miner

Variants in gene RBFOX1

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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 total
12 5 133 36 33 213

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
See cases 8 1 77 18 5 109
Idiopathic generalized epilepsy 0 0 33 16 11 60
not provided 0 1 17 1 20 39
Autism spectrum disorder 0 0 6 0 0 6
Rolandic epilepsy 4 0 0 0 0 4
Undetermined early-onset epileptic encephalopathy 0 2 0 0 0 2
not specified 0 0 1 0 1 2
Abnormality of esophagus morphology 0 0 0 1 0 1
Autistic disorder of childhood onset 0 1 0 0 0 1
Schizophrenia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 33 16 11 60
ISCA site 1 0 0 51 6 0 57
GeneDx 3 1 15 2 1 22
ISCA site 4 1 0 9 6 0 16
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 16 16
Athena Diagnostics Inc 0 0 3 1 5 9
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 1 6 1 0 9
ISCA site 6 2 0 1 3 3 9
Geschwind lab,University of California Los Angeles 0 0 6 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 4
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 1
ISCA site 15 0 0 1 0 0 1
ISCA site 2 0 0 0 0 1 1
ISCA site 8 1 0 0 0 0 1
Cytogenetics and Genomics Laboratory,University of Washington 0 0 1 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1

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