ClinVar Miner

Variants studied for Pyruvate dehydrogenase E1-alpha deficiency

Coded as:
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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
242 178 106 207 86 767

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 benign total
PDHA1 240 177 94 205 68 732
MAP3K15, PDHA1 0 0 12 1 18 31
PDHX 0 1 0 1 0 2
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 37 6 49 202 62 356
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University 201 130 0 0 0 331
Illumina Laboratory Services, Illumina 2 1 17 3 32 55
OMIM 23 0 0 0 0 23
3billion 4 9 4 0 0 17
Revvity Omics, Revvity 5 6 5 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 3 4 0 0 13
Baylor Genetics 7 0 5 0 0 12
Institute of Human Genetics Munich, TUM University Hospital 7 5 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 3 0 0 6
Mendelics 3 1 0 2 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 2 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 0 0 0 0 5
Variantyx, Inc. 3 2 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 1 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 3
New York Genome Center 1 0 2 0 0 3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 3 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 1 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 2 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 0 1 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 1
Dasa 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 1 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 1

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