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:

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
56 103 808 154 98 1195

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 30 89 683 82 83 955
AUH 17 12 83 59 9 168
AUH, LOC130002059 6 0 25 13 3 47
CUBN, LOC129390143 0 1 9 0 1 11
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: 30
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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 0 235 34 85 354
Labcorp Genetics (formerly Invitae), Labcorp 12 7 91 71 10 191
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
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 7 0 0 0 8
MVZ Medizinische Genetik Mainz 4 2 2 0 0 8
3billion 3 1 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 4
New York Genome Center 0 0 4 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 1

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