ClinVar Miner

Variants studied for 3-methylglutaconic aciduria

Included ClinVar conditions (12):
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
121 43 701 189 158 1 1183

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 6 0 223 34 78 0 341
OPA3 8 11 206 47 35 1 303
CLPB 29 3 111 50 14 0 200
TAFAZZIN 26 16 61 31 7 0 134
SERAC1 17 7 33 7 13 0 71
AUH 11 4 40 9 7 0 66
DNAJC19 4 1 11 4 3 0 23
DNASE1L1, TAFAZZIN 4 1 9 7 1 0 22
TIMM50 9 0 3 0 0 0 12
HTRA2 2 0 2 0 0 0 4
AMN 2 0 1 0 0 0 3
HTRA2, LOXL3 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
MT-TL1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 416 57 123 0 595
Invitae 36 15 224 131 38 0 444
OMIM 60 0 0 0 0 0 60
Counsyl 0 6 29 0 0 0 35
Baylor Genetics 6 1 26 0 0 0 33
GeneReviews 23 0 0 0 0 0 23
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 8 0 0 0 0 11
Natera, Inc. 1 1 2 1 1 0 6
Institute of Human Genetics, Klinikum rechts der Isar 2 4 0 0 0 0 6
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
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
Fulgent Genetics,Fulgent Genetics 1 0 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 2
Sandor Lifesciences Pvt Ltd 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
laboratory of biochemistry,Caen University Hospital 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Ro'ya Specialized Medical Laboratories,King Abdulaziz University 1 0 0 0 0 0 1

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