ClinVar Miner

Variants studied for 3-methylglutaconic aciduria type 1

Included ClinVar conditions (3):
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 total
52 97 806 147 98 1179

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CUBN 26 84 681 82 83 946
AUH 17 11 84 54 9 164
AUH, LOC130002059 6 0 25 11 3 45
CUBN, LOC129390143 0 1 8 0 1 10
CUBN, LOC126860871 0 1 6 0 2 9
AMN 1 0 1 0 0 2
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 1
AUH, NFIL3, ROR2 0 0 1 0 0 1
MT-TL1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 16 78 532 52 3 681
Illumina Laboratory Services, Illumina 0 0 237 34 85 356
Labcorp Genetics (formerly Invitae), Labcorp 12 7 90 64 10 183
Genome-Nilou Lab 0 0 0 0 29 29
OMIM 16 0 0 0 0 16
Baylor Genetics 0 0 9 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 5 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 5
MVZ Medizinische Genetik Mainz 3 1 1 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 4
New York Genome Center 0 0 4 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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