ClinVar Miner

Variants studied for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
36 25 31 48 39 175

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACTB 28 18 24 31 16 113
ACTG1 8 7 7 17 23 62

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 5 20 48 39 115
OMIM 15 0 0 0 0 15
GeneReviews 15 0 0 0 0 15
Department of Genetics,Robert DEBRE University Hospital 15 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 4 4 1 0 0 9
Baylor Genetics 1 2 2 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 2 3 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 1

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