ClinVar Miner

Variants studied for Rett syndrome, congenital variant

Coded as:
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 total
41 15 34 18 5 107

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 benign total
FOXG1 39 15 34 18 5 105
ARSJ, FOXG1 1 0 0 0 0 1
FOXG1, WDFY1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 2 23 15 5 56
Genetic Services Laboratory, University of Chicago 11 6 5 0 0 22
RettBASE 20 0 1 0 0 21
OMIM 7 0 0 0 0 7
Center for Human Genetics, Inc 0 1 3 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 1 0 2 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 2 0 0 4
HudsonAlpha Institute for Biotechnology 2 1 0 0 0 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Fulgent Genetics 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 1

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