ClinVar Miner

Variants studied for citrullinemia, type II, adult-onset

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
28 60 11 0 2 5 96

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
SLC25A13 27 59 9 2 5 92
LOC129998833, SLC25A13 0 1 2 0 0 3
ASS1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Baylor Genetics 25 57 1 0 0 83
Fulgent Genetics, Fulgent Genetics 3 3 4 0 0 10
GeneReviews 0 0 0 0 5 5
Genome-Nilou Lab 0 0 3 2 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 4
Pars Genome Lab 0 0 1 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.