ClinVar Miner

Variants studied for pyruvate dehydrogenase deficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
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
211 173 611 981 214 6 2073

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DLD 57 79 129 298 38 0 552
PDHA1 77 45 78 204 67 0 444
LIAS 20 8 151 124 11 4 308
PDHB 24 19 58 182 21 0 281
DLAT 11 6 62 82 15 0 170
PDHX 12 10 45 8 26 2 100
LOC129936949, PDHB 0 2 12 52 1 0 65
DLAT, PIH1D2 1 1 16 13 3 0 32
MAP3K15, PDHA1 0 0 12 1 18 0 31
LIAS, LOC112939935 0 0 22 5 0 0 27
LOC130005549, PDHX 3 2 6 2 6 0 18
APIP, LOC130005547, PDHX 0 0 4 2 5 0 11
PDP1 3 0 6 0 1 0 10
DLD, LOC129999127 0 0 2 7 0 0 9
​intergenic 0 1 0 0 0 0 1
ABHD6, ACOX2, APPL1, ARF4, ASB14, DENND6A, DNAH12, DNASE1L3, FLNB, HESX1, IL17RD, KCTD6, PDE12, PDHB, PXK, RPP14, SLMAP 0 0 1 0 0 0 1
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 0 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 1
ALG9, BCO2, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, IL18, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, PTS, SDHD, SIK2, TEX12, TIMM8B 0 0 1 0 0 0 1
APBB2, CHRNA9, FAM114A1, KLB, KLHL5, LIAS, LIMCH1, N4BP2, NSUN7, PDS5A, PHOX2B, RBM47, RFC1, RHOH, RPL9, SMIM14, TLR1, TLR10, TLR6, TMEM156, UBE2K, UCHL1, UGDH, WDR19 0 0 1 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
DLD, SLC26A3 1 0 0 0 0 0 1
KLB, LIAS, RPL9 0 0 1 0 0 0 1
LIAS, LOC112939935, LOC129992453 0 0 1 0 0 0 1
LIAS, RPL9 0 0 1 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 1
LOC129936948, PDHB 0 0 1 0 0 0 1
LOC130000734, PDP1 0 0 0 0 1 0 1
LOC130005548, PDHX 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 121 32 384 932 119 0 1588
Illumina Laboratory Services, Illumina 2 1 133 27 101 0 255
Natera, Inc. 2 0 46 28 17 0 93
Baylor Genetics 14 44 23 0 0 0 81
OMIM 68 0 0 0 0 0 68
Revvity Omics, Revvity 8 11 19 0 0 0 38
Counsyl 1 19 5 0 0 0 25
Genome-Nilou Lab 0 0 7 1 16 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 13 0 0 0 0 22
Myriad Genetics, Inc. 2 18 0 0 0 0 20
Fulgent Genetics, Fulgent Genetics 2 1 7 4 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 3 4 0 0 0 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 5 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 4 7 0 0 0 13
3billion 4 3 3 2 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 10 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 2 3 0 0 0 10
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 4 1 1 0 3 0 9
Mendelics 4 1 0 2 1 0 8
Institute of Human Genetics, University of Leipzig Medical Center 4 3 0 0 0 0 7
Pars Genome Lab 0 0 0 0 7 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 2 0 0 0 4
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Center for Human Genetics Laboratory, University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Lab of Neurogenetics and Mitochondrial Disorders, Fondazione IRCCS Istituto Neurologico Besta 0 1 0 0 0 0 1

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