ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "uncertain significance" from any submitter

Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
HGVS dbSNP
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604

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.