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
41 23 418 137 98 706

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 17 15 308 74 83 495
AUH 17 7 81 52 9 157
AUH, LOC130002059 4 0 21 11 3 39
CUBN, LOC126860871 0 1 2 0 2 5
CUBN, LOC129390143 0 0 4 0 1 5
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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 238 34 85 357
Fulgent Genetics, Fulgent Genetics 9 12 135 44 3 203
Invitae 10 5 84 62 10 171
Genome-Nilou Lab 0 0 0 0 29 29
OMIM 16 0 0 0 0 16
Baylor Genetics 0 0 9 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 2 0 0 6
Revvity Omics, Revvity 0 0 4 0 0 4
New York Genome Center 0 0 4 0 0 4
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 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 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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