ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome 6

Coded as:
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
11 10 0 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic total
ADAR 11 10 13

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic total
OMIM 10 0 10
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 8
GeneReviews 2 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 2
Baylor Genetics 1 0 1
Institute of Human Genetics,Cologne University 0 1 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 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.