ClinVar Miner

Variants studied for Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7

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 not provided total
6 1 677 496 63 4 1234

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFIH1 6 1 677 496 63 4 1234

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 666 496 63 0 1232
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 13 0 0 0 13
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
New York Genome Center 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.