ClinVar Miner

Variants studied for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (6):
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 not provided total
49 64 144 434 94 5 748

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 not provided total
ACTB 36 42 85 218 29 3 391
ACTG1 12 22 58 210 58 2 344
ACTG1, LOC130061940 1 0 1 6 7 0 13

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 18 117 422 77 0 644
Genome-Nilou Lab 0 0 0 0 79 0 79
Fulgent Genetics, Fulgent Genetics 0 1 1 29 3 0 34
Baylor Genetics 4 7 7 0 0 0 17
OMIM 15 0 0 0 0 0 15
Department of Genetics, Robert DEBRE University Hospital 15 0 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 4 4 1 0 0 0 9
3billion 3 4 1 0 0 0 8
Centogene AG - the Rare Disease Company 1 3 2 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 3 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 3 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Suma Genomics 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
2nd Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens 1 0 0 0 0 0 1
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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