ClinVar Miner

Variants studied for Rett syndrome, congenital variant

Coded as:
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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 total
45 18 32 10 0 103

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FOXG1 43 18 32 10 101
ARSJ, FOXG1 1 0 0 0 1
FOXG1, WDFY1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Invitae 14 3 20 6 43
Genetic Services Laboratory, University of Chicago 11 6 5 0 22
RettBASE 20 0 1 0 21
OMIM 7 0 0 0 7
Center for Human Genetics, Inc 0 1 3 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 1 0 2 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 2 0 4
Mendelics 1 1 1 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2
Baylor Genetics 0 0 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 1

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