ClinVar Miner

Variants studied for 3-methylglutaconic aciduria

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
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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 not provided total
220 225 1849 913 214 29 3324

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 26 81 681 82 83 0 945
OPA3 9 21 306 148 36 5 509
CLPB 26 10 270 180 19 16 501
TAFAZZIN 48 49 160 166 10 0 406
SERAC1 35 23 117 116 32 2 299
AUH 17 11 85 54 9 0 164
DNAJC19 13 8 46 51 5 1 121
CLPB, LOC130006336 2 1 55 30 3 0 90
CLPB, LOC126861258 7 2 27 26 1 4 61
LOC130064709, OPA3 3 5 20 21 3 1 49
AUH, LOC130002059 6 0 24 11 3 0 44
DNASE1L1, LOC130068869, TAFAZZIN 2 4 20 18 1 0 43
TIMM50 9 2 6 2 4 0 23
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 17
CUBN, LOC129390143 0 1 8 0 1 0 10
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
​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

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 103 39 858 787 79 0 1866
Fulgent Genetics, Fulgent Genetics 18 88 546 65 5 0 722
Illumina Laboratory Services, Illumina 0 2 416 57 123 0 597
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
Counsyl 0 6 29 0 0 0 35
GeneReviews 0 0 0 0 0 23 23
Revvity Omics, Revvity 3 3 14 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 7 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 5 2 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 8 0 0 0 0 11
Natera, Inc. 1 1 6 1 2 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 2 1 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 4 0 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
3billion, Medical Genetics 3 0 0 2 0 0 5
MVZ Medizinische Genetik Mainz 3 1 1 0 0 0 5
Elsea Laboratory, Baylor College of Medicine 1 0 3 0 0 0 4
Mendelics 1 0 2 0 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 4 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 4
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 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 1 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 1 0 0 0 2
laboratory of biochemistry, Caen University Hospital 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
DASA 1 1 0 0 0 0 2
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
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Laboratory of Metabolic Disorders, Peking University First Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Mitochondrial Research Group, Murdoch Children's Research Institute 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 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
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Ro'ya Specialized Medical Laboratories, King Abdulaziz University 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1

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