ClinVar Miner

Variants studied for 12p12.1 microdeletion syndrome

Included ClinVar conditions (1):
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 total
50 31 39 4 2 118

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SOX5 43 30 39 4 2 110
LOC132090076, SOX5 2 0 0 0 0 2
BCAT1, C2CD5, ETNK1, IRAG2, LINC02909, SOX5 1 0 0 0 0 1
BCAT1, LINC02909, SOX5 1 0 0 0 0 1
E2F2, ELOA, GALE, HMGCL, ID3, LYPLA2, MDS2, PITHD1, RPL11 1 0 0 0 0 1
LOC129390412, LOC129390413, LOC129390414, SOX5 1 0 0 0 0 1
LOC129390413, LOC129390414, SOX5 1 0 0 0 0 1
LOC129390413, SOX5 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute for Human Genetics, University Hospital Essen 23 2 0 0 0 25
Revvity Omics, Revvity 0 1 11 0 0 12
Baylor Genetics 2 0 7 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 7
New York Genome Center 0 2 5 0 0 7
OMIM 5 0 0 0 0 5
3billion 0 3 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 2 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 2
Mendelics 1 1 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 1
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 1
Suma Genomics 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1

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