ClinVar Miner

Variants studied for Pyruvate dehydrogenase E1-alpha deficiency

Coded as:
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Gene type:
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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
75 40 81 194 85 459

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 total
PDHA1 74 39 69 192 67 425
MAP3K15, PDHA1 0 0 12 1 18 31
PDHX 0 1 0 1 0 2
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 35 5 36 189 61 326
Illumina Laboratory Services, Illumina 2 1 17 3 32 55
OMIM 23 0 0 0 0 23
Revvity Omics, Revvity Omics 5 5 4 0 0 14
Baylor Genetics 7 0 5 0 0 12
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 7 5 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 3 3 0 0 9
3billion 3 3 3 0 0 9
Mendelics 3 1 0 2 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 3 0 0 6
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 2 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 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
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 1

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