ClinVar Miner

Variants studied for Lamb-Shaffer syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
40 20 31 1 2 90

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SOX5 33 20 31 1 2 83
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

Submitter and significance breakdown #

Total submitters: 43
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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
Baylor Genetics 2 0 7 0 0 9
Revvity Omics, Revvity Omics 0 1 8 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 7
OMIM 5 0 0 0 0 5
New York Genome Center 0 0 5 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 2
Mendelics 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Lifecell International Pvt. Ltd 1 1 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
3billion 0 1 0 0 0 1
Suma Genomics 0 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 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 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 1

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