ClinVar Miner

Variants studied for 3-methylglutaconic aciduria type 1

Included ClinVar conditions (2):
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
21 68 92 4 17 4 197

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 9 43 69 0 16 2 133
AUH 9 2 20 4 0 0 34
AMN 1 23 3 0 1 2 28
AMN, TRAF3 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 4 54 0 6 0 72
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Illumina Clinical Services Laboratory,Illumina 0 0 20 4 0 0 24
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 10 10 0 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 15 0 16
OMIM 10 0 0 0 0 0 10
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 3 3
Mendelics 0 0 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.