ClinVar Miner

Variants studied for 3-methylglutaconic aciduria type 3

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
11 22 304 166 39 6 532

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OPA3 9 17 287 146 36 4 487
LOC130064709, OPA3 2 5 17 20 3 1 44
DNAJC19 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 8 4 108 149 5 0 274
Illumina Laboratory Services, Illumina 0 0 165 17 33 0 214
Counsyl 0 6 29 0 0 0 35
Baylor Genetics 1 11 2 0 0 0 14
Natera, Inc. 1 1 6 1 2 0 11
Fulgent Genetics, Fulgent Genetics 1 0 3 1 1 0 6
OMIM 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
GeneReviews 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Suma Genomics, Suma Genomics 1 0 1 0 0 0 2
Mendelics 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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.