ClinVar Miner

Variants studied for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (4):
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
31 12 8 11 13 74

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 25 9 4 7 9 53
ACTG1 6 3 4 4 4 21

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 2 5 11 13 31
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
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
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics,University Hospital Bonn 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 1

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