ClinVar Miner

Variants studied for 3-methylglutaconic aciduria

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
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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 not provided total
234 259 1933 986 208 31 3508

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 30 89 683 82 83 0 955
CLPB 28 15 308 196 19 16 559
OPA3 9 29 311 149 30 7 514
TAFAZZIN 49 53 174 179 11 0 441
SERAC1 38 25 126 129 32 2 322
AUH 17 13 83 59 9 0 169
DNAJC19 14 9 45 68 5 1 139
CLPB, LOC130006336 3 1 60 33 3 0 99
CLPB, LOC126861258 7 3 29 27 1 4 64
LOC130064709, OPA3 4 6 24 22 3 1 55
AUH, LOC130002059 6 0 25 13 3 0 47
DNASE1L1, LOC130068869, TAFAZZIN 2 4 22 18 0 0 44
TIMM50 9 3 7 2 4 0 24
DNASE1L1, TAFAZZIN 3 2 8 7 1 0 20
CUBN, LOC129390143 0 1 9 0 1 0 11
CUBN, LOC126860871 0 1 6 0 2 0 9
HTRA2 1 2 2 2 1 0 8
HTRA2, LOXL3 3 1 1 0 0 0 5
HTRA2, LOC129934143 1 0 2 0 0 0 3
AMN 1 0 1 0 0 0 2
ARV1 1 0 1 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ACAT2, AGPAT4, AIRN, DYNLT1, EZR, FNDC1, GTF2H5, IGF2R, LINC02901, LPA, MAP3K4, MAS1, MRPL18, PLG, PNLDC1, PRKN, RSPH3, SERAC1, SLC22A1, SLC22A2, SLC22A3, SOD2, SYTL3, TAGAP, TCP1, TMEM181, TULP4, WTAP 1 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 0 1
ANAPC15, ARAP1, ARHGEF17, ARRB1, ATG16L2, C2CD3, CHRDL2, CLPB, COA4, DEFB108B, DHCR7, DNAJB13, FAM168A, FAM86C1P, FCHSD2, FOLR1, FOLR2, FOLR3, GDPD5, IL18BP, INPPL1, KCNE3, KLHL35, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LIPT2, LRTOMT, MIR139, MIR326, MRPL48, NADSYN1, NEU3, NUMA1, OR2AT4, P2RY2, P2RY6, P4HA3, PAAF1, PDE2A, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, SERPINH1, SLCO2B1, SNORD15A, SPCS2, STARD10, TPBGL, UCP2, UCP3, XRRA1, ZNF705E 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
AUH, NFIL3, ROR2 0 0 1 0 0 0 1
CCDC39, DNAJC19, FXR1 1 0 0 0 0 0 1
CLPB, LOC124500684, LOC126861258, LOC126861259, LOC130006330, LOC130006331, LOC130006332, LOC130006333, LOC130006334, LOC130006335, LOC130006336 1 0 0 0 0 0 1
HTRA2, LOC129934140 0 0 1 0 0 0 1
HTRA2, LOC129934141 0 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 1
YME1L1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 112 45 936 865 80 0 2038
Fulgent Genetics, Fulgent Genetics 18 88 546 65 5 0 722
Illumina Laboratory Services, Illumina 0 0 394 50 116 0 560
Genome-Nilou Lab 4 2 8 11 55 0 80
OMIM 71 0 0 0 0 0 71
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 58
Baylor Genetics 4 14 29 0 0 0 47
Natera, Inc. 2 12 22 1 2 0 39
Counsyl 0 6 29 0 0 0 35
GeneReviews 0 0 0 0 0 23 23
Revvity Omics, Revvity 3 4 15 0 0 0 22
3billion 8 3 4 2 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 11 0 1 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 5 4 1 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 3 1 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 7 0 0 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 8 0 0 0 0 11
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 9 0 0 0 0 10
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 1 5 0 0 0 8
Institute of Human Genetics Munich, TUM University Hospital 4 4 0 0 0 0 8
MVZ Medizinische Genetik Mainz 4 2 2 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 7
New York Genome Center 0 0 6 0 0 0 6
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 6 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 4
Elsea Laboratory, Baylor College of Medicine 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 0 0 0 4
Mendelics 1 0 2 0 1 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 3
Kids Research, The Children's Hospital at Westmead 2 0 1 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Dasa 1 1 0 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 0 1 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 2 0 0 0 0 0 2
laboratory of biochemistry, Caen University Hospital 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Clinical Immunology and Allergy, Necmettin Erbakan University, Faculty of Medicine 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Metabolic Disorders, Peking University First Hospital 1 0 0 0 0 0 1
Mitochondrial Research Group, Murdoch Children's Research Institute 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Ro'ya Specialized Medical Laboratories, King Abdulaziz University 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1

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