ClinVar Miner

Variants studied for Wiedemann-Steiner syndrome

Coded as:
Minimum submission review status: Collection method:
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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
138 73 85 22 0 6 314

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
KMT2A 130 68 81 22 6 297
KMT2A, TTC36 6 4 4 0 0 14
ARID1B 0 1 0 0 0 1
CHD7 1 0 0 0 0 1
SMC1A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 2 12 1 0 28
Baylor Genetics 8 3 14 0 0 25
3billion 8 9 0 4 0 21
Mendelics 13 5 1 1 0 20
Fulgent Genetics, Fulgent Genetics 1 0 2 15 0 18
Revvity Omics, Revvity 2 4 8 0 0 14
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 10 1 1 1 0 13
New York Genome Center 0 2 11 0 0 13
Genetic Services Laboratory, University of Chicago 6 3 1 0 0 10
Illumina Laboratory Services, Illumina 3 2 5 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 4 0 0 9
OMIM 8 0 0 0 0 8
MGZ Medical Genetics Center 1 2 3 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 2 2 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 6
Genomic Medicine Lab, University of California San Francisco 6 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 5 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 2 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 2 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 2 2 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 0 4
MVZ Medizinische Genetik Mainz 0 2 2 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 3
Laboratory of Medical Genetics, University of Torino 1 1 1 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 1 1 1 0 0 3
Molecular Genetics Laboratory, Motol Hospital 2 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
DASA 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 1

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