ClinVar Miner

Variants studied for pyruvate metabolism disorder

Included ClinVar conditions (79):
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 affects likely risk allele uncertain risk allele not provided total
910 895 2997 2447 893 4 124 140 89 7495

Gene and significance breakdown #

Total genes and gene combinations: 90
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele uncertain risk allele not provided total
PFKM 48 84 167 524 41 0 0 0 1 825
ABCC8 35 18 494 49 33 0 0 18 13 619
GCK 147 240 146 70 87 0 49 53 6 607
DLD 57 79 129 298 38 0 0 0 0 552
PDHA1 77 45 78 204 67 0 0 0 0 444
HNF1A 94 108 124 92 78 0 31 25 3 418
HNF1B 153 86 104 75 44 0 19 17 0 413
HNF4A 37 57 150 70 132 0 14 22 2 357
LIAS 20 8 151 124 11 0 0 0 4 308
PDHB 24 19 58 182 21 0 0 0 0 281
ENO3 6 2 141 125 22 0 0 0 1 280
KCNJ11 19 19 179 22 28 0 1 0 24 228
ALDOA, LOC112694756 4 4 109 105 11 0 0 0 1 220
DLAT 11 6 62 82 15 0 0 0 0 170
LDHA 5 2 86 54 13 0 0 0 0 150
PKLR 25 26 69 4 4 0 0 0 0 122
KLF11 2 0 68 20 24 0 0 0 0 111
BLK 4 0 50 25 30 0 0 0 0 104
PDHX 12 10 45 8 26 0 0 0 2 100
DBNL, PGAM2 7 1 56 35 4 0 0 0 1 93
NEUROD1 2 0 61 13 10 0 0 0 0 84
GPI 20 11 39 8 6 0 0 0 0 77
PAX4 2 0 40 26 8 0 0 0 0 73
TPI1 8 3 41 10 12 0 0 0 0 69
PGK1 16 3 36 12 2 0 0 0 0 66
LOC129936949, PDHB 0 2 12 52 1 0 0 0 0 65
PDX1 2 10 24 30 7 0 0 0 1 64
HNF1B, LOC126862549 15 14 14 9 6 0 2 2 0 53
INS, INS-IGF2 12 6 24 6 2 0 8 2 24 52
CEL 3 6 24 13 5 0 0 0 0 45
C12orf43, HNF1A 3 2 24 7 25 0 0 1 1 43
LDHB 0 0 24 2 4 4 0 0 0 34
DLAT, PIH1D2 1 1 16 13 3 0 0 0 0 32
HK1 8 8 8 1 7 0 0 0 1 32
MAP3K15, PDHA1 0 0 12 1 18 0 0 0 0 31
LIAS, LOC112939935 0 0 22 5 0 0 0 0 0 27
BLK, LOC126860302 0 0 13 4 3 0 0 0 0 20
ABCC8, LOC110121471 1 0 8 7 4 0 0 0 0 18
LOC130005549, PDHX 3 2 6 2 6 0 0 0 0 18
DBNL, LOC129998343, PGAM2 3 2 11 4 1 0 0 0 0 17
DBNL, LOC129998342, PGAM2 1 0 6 7 3 0 0 0 0 15
APIP, LOC130005547, PDHX 0 0 4 2 5 0 0 0 0 11
DBNL, LOC129998341, PGAM2 0 0 8 4 0 0 0 0 0 11
HCN3, PKLR 0 0 9 0 1 0 0 0 0 10
PDP1 3 0 6 0 1 0 0 0 0 10
APPL1 2 0 1 3 4 0 0 0 0 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 0 9
BLK, LOC126860303 0 0 1 3 5 0 0 0 0 8
LDHD 7 3 0 0 0 0 0 0 0 8
MPC1 2 4 2 0 0 0 0 0 0 8
ABCC8, KCNJ11 0 0 5 7 4 0 0 0 1 7
INS, INS-IGF2, TH 0 0 1 5 5 0 0 0 0 7
MIR6505, PFKM 0 1 0 5 0 0 0 0 0 6
INS 1 1 2 1 0 0 0 0 3 4
INS, TH 0 0 0 4 0 0 0 0 0 4
PTF1A 1 0 1 1 1 0 0 0 0 4
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 0 0 0 2
PGAM2 1 0 1 0 0 0 0 0 0 2
​intergenic 0 1 0 0 0 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 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 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 0 0 0 1
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16 0 1 0 0 0 0 0 0 0 1
ALDOA, LOC112694756, LOC130058806, LOC130058807 0 0 1 0 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 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 0 0 0 1
APPL1, ASB14 0 0 0 1 0 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 0 1
DLD, SLC26A3 1 0 0 0 0 0 0 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 0 1
GTF2H1, HPS5, LDHA 0 0 1 0 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 0 1
KLB, LIAS, RPL9 0 0 1 0 0 0 0 0 0 1
LIAS, LOC112939935, LOC129992453 0 0 1 0 0 0 0 0 0 1
LIAS, RPL9 0 0 1 0 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 0 0 0 1
LMNA 0 0 0 1 0 0 0 0 0 1
LOC127407129, RFX6 0 1 0 0 0 0 0 0 0 1
LOC129936948, PDHB 0 0 1 0 0 0 0 0 0 1
LOC130000734, PDP1 0 0 0 0 1 0 0 0 0 1
LOC130005548, PDHX 0 0 0 1 0 0 0 0 0 1
MLKL 1 0 0 0 0 0 0 0 0 1
PARK7 0 0 0 1 0 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 0 1
PRKAG2 0 0 0 0 1 0 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 174
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 178 61 814 1765 191 0 0 0 0 3009
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 112 708 127 325 0 124 140 0 1592
Illumina Laboratory Services, Illumina 7 2 846 231 376 0 0 0 0 1422
Fulgent Genetics, Fulgent Genetics 48 36 253 164 15 0 0 0 0 516
Ambry Genetics 70 49 91 156 32 0 0 0 0 398
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 61 148 24 25 4 0 0 0 6 268
OMIM 242 0 2 0 0 4 0 0 0 248
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 22 4 0 0 0 0 0 218
Natera, Inc. 5 9 92 49 34 0 0 0 0 189
Baylor Genetics 25 91 49 0 0 0 0 0 0 165
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 1 41 38 64 0 0 0 0 151
Revvity Omics, Revvity 14 18 118 0 0 0 0 0 0 150
Geisinger Clinic, Geisinger Health System 73 24 0 0 0 0 0 0 0 97
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 9 61 1 6 0 0 0 0 90
Genome-Nilou Lab 0 0 12 3 53 0 0 0 0 68
GeneReviews 3 0 0 0 0 0 0 0 63 66
Counsyl 1 28 31 1 0 0 0 0 0 61
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 30 12 14 0 0 0 0 0 0 56
New York Genome Center 2 1 47 0 0 0 0 0 0 50
3billion 10 13 24 2 0 0 0 0 0 49
Pars Genome Lab 0 0 1 6 39 0 0 0 0 46
Mendelics 14 6 8 6 9 0 0 0 0 43
Myriad Genetics, Inc. 3 40 0 0 0 0 0 0 0 43
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 12 9 19 0 0 0 0 0 0 39
Genetic Services Laboratory, University of Chicago 19 17 0 0 0 0 0 0 0 36
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 0 0 36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 17 18 0 0 0 0 0 0 0 35
Neuberg Centre For Genomic Medicine, NCGM 7 8 16 0 0 0 0 0 0 31
MVZ Medizinische Genetik Mainz 5 12 14 0 0 0 0 0 0 31
Institute of Human Genetics, University of Leipzig Medical Center 10 10 7 0 0 0 0 0 0 27
Juno Genomics, Hangzhou Juno Genomics, Inc 11 5 11 0 0 0 0 0 0 27
Genetics and Molecular Pathology, SA Pathology 6 14 6 0 0 0 0 0 0 26
MGZ Medical Genetics Center 4 11 8 0 0 0 0 0 0 23
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 5 14 0 0 0 0 0 0 22
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 12 6 2 1 0 0 0 0 0 21
National Newborn Screening Laboratory, Hospital Nacional de Niños 3 17 0 0 0 0 0 0 0 20
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 19 19
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 11 8 0 0 0 0 0 0 0 19
Translational Genomics Laboratory, University of Maryland School of Medicine 10 7 0 0 0 0 0 0 0 17
Molecular Genetics, Royal Melbourne Hospital 4 4 6 1 2 0 0 0 0 17
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 0 0 0 0 14
Molecular Genetics, Madras Diabetes Research Foundation 3 4 6 1 0 0 0 0 0 14
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 4 0 1 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 4 0 0 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 6 1 0 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 4 0 0 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 2 5 0 0 0 0 0 0 9
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 4 1 1 0 3 0 0 0 0 9
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 2 5 1 0 0 0 0 0 9
MVZ Dr. Eberhard & Partner Dortmund 0 1 7 0 0 0 0 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 5 2 0 0 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 4 4 0 0 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 7 7
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 2 0 3 0 0 0 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 3 0 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 2 0 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 2 0 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 4 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 0 0 0 5
Elsea Laboratory, Baylor College of Medicine 3 0 0 1 0 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 1 0 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 2 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 2 0 0 0 0 0 0 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 2 1 0 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 2 0 0 0 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 3 0 0 0 1 0 0 0 0 4
DASA 3 1 0 0 0 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 1 3 0 0 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 0 3
Kangwon National University Hospital 1 2 0 0 0 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 2 0 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 0 0 0 3
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 2 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 0 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 0 0 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 2 0 0 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 0 0 0 3
Watson Genetic Lab 2 1 0 0 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 0 0 0 3
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 3 0 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 0 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 0 2 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 2 2
Suma Genomics 1 0 1 0 0 0 0 0 0 2
Department of Neurology, Beijing Children's Hospital, Capital Medical University 0 2 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 2 2
Stone Lab, Washington University School of Medicine 2 0 0 0 0 0 0 0 0 2
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 2 0 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 0 1
Center for Human Genetics Laboratory, University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 0 0 1
Center for Medical Genomics, Jagiellonian University Medical College 1 0 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 0 0 0 0 1
Sidra Medicine 1 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 0 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 1 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 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 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Center for Computational Genomics and Data Science, University of Alabama 1 0 0 0 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 0 1
Kuwait Medical Genetics Centre, Kuwait Ministry of Health 0 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 0 0 1
Lab of Neurogenetics and Mitochondrial Disorders, Fondazione IRCCS Istituto Neurologico Besta 0 1 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.