ClinVar Miner

Variants in gene DNAJC19

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
13 9 55 66 12 2 147

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3-methylglutaconic aciduria type 5 13 8 45 51 5 0 120
not provided 0 2 7 12 9 1 29
Inborn genetic diseases 0 0 12 0 0 0 12
not specified 0 0 1 6 5 0 12
DNAJC19-related disorder 1 0 0 3 0 0 4
3-Methylglutaconic aciduria 0 0 1 0 0 0 1
3-Methylglutaconic aciduria type 3 0 0 0 0 0 1 1
See cases 0 0 1 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
Labcorp Genetics (formerly Invitae), Labcorp 10 5 40 51 5 0 111
GeneDx 0 0 7 11 10 0 28
Ambry Genetics 0 0 12 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 4 4 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 3 0 5
PreventionGenetics, part of Exact Sciences 1 0 0 3 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 1 0 3 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 1 1 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Illumina Laboratory Services, Illumina 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 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.