ClinVar Miner

Variants studied for Norman-Roberts syndrome

Included ClinVar conditions (3):
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
12 2 567 139 87 1 758

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RELN 12 1 449 113 66 1 598
LOC101927870, RELN 0 1 118 26 21 0 160

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 1 456 120 62 0 643
Illumina Clinical Services Laboratory,Illumina 0 0 144 22 49 0 215
Fulgent Genetics,Fulgent Genetics 0 0 32 0 0 0 32
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 3 10 0 14
Genetic Services Laboratory,University of Chicago 5 0 0 0 0 0 5
OMIM 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 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.