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
196 133 1355 806 213 29 2621

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 17 15 308 74 83 0 495
OPA3 8 15 287 146 36 5 484
CLPB 25 9 227 156 19 16 433
TAFAZZIN 45 47 142 141 10 0 358
SERAC1 34 14 114 91 31 2 261
AUH 17 7 81 52 9 0 157
DNAJC19 10 8 46 43 5 1 110
CLPB, LOC130006336 2 1 47 23 3 0 76
CLPB, LOC126861258 7 2 24 22 1 4 54
LOC130064709, OPA3 2 4 17 20 3 1 43
AUH, LOC130002059 4 0 21 11 3 0 39
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 38
TIMM50 8 2 5 2 4 0 21
DNASE1L1, TAFAZZIN 3 2 5 6 1 0 16
HTRA2 1 1 2 2 1 0 7
CUBN, LOC126860871 0 1 2 0 2 0 5
CUBN, LOC129390143 0 0 4 0 1 0 5
HTRA2, LOC129934143 1 0 2 0 0 0 3
AMN 1 0 1 0 0 0 2
HTRA2, LOXL3 2 0 0 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
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, 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
G6PD 1 0 0 0 0 0 1
HTRA2, LOC129934141 0 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 90 34 756 690 78 0 1648
Illumina Laboratory Services, Illumina 0 0 416 57 123 0 595
Fulgent Genetics, Fulgent Genetics 11 13 144 57 5 0 230
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 10 29 0 0 0 43
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 4 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 3 2 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 4 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 1 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
New York Genome Center 0 0 5 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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 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
3billion 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
MGZ Medical Genetics Center 0 1 1 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
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 0 2 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
Suma Genomics 1 0 1 0 0 0 2
DASA 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 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
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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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
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
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
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

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