ClinVar Miner

Variants studied for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
58 74 229 571 94 5 972

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACTB 38 49 113 280 29 3 483
ACTG1 19 23 110 281 58 2 466
ACTG1, LOC130061940 1 2 5 10 7 0 22
ACTB, AP5Z1, FBXL18, FSCN1, MMD2, PAPOLB, RADIL, RBAK, RBAK-RBAKDN, RNF216, SLC29A4, TNRC18, WIPI2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 16 19 165 560 77 0 837
Genome-Nilou Lab 0 0 0 0 79 0 79
Fulgent Genetics, Fulgent Genetics 0 2 28 29 3 0 62
Baylor Genetics 4 8 7 0 0 0 18
Department of Genetics, Robert DEBRE University Hospital 15 0 0 0 0 0 15
OMIM 15 0 0 0 0 0 15
3billion 4 5 2 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 4 3 0 0 0 11
Genetic Services Laboratory, University of Chicago 4 4 1 0 0 0 9
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 3 2 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 3 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 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 Munich, TUM University Hospital 2 3 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 2 0 0 0 5
GeneReviews 0 0 0 0 0 3 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
MVZ Martinsried, Medicover Genetics 0 2 1 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1 0 2
New York Genome Center 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Suma Genomics 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
2nd Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens 1 0 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 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
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 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
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 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
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 0 0 0 0 1
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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