ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from SingHealth Duke-NUS Institute of Precision Medicine and "benign" from any submitter

Minimum review status of the submission from SingHealth Duke-NUS Institute of Precision Medicine: Collection method of the submission from SingHealth Duke-NUS Institute of Precision Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_006516.3(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113

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.