ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1692_1693del (p.Lys565_Asn566insTer) (rs1553367635)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505645 SCV000599965 pathogenic Lynch syndrome I 2013-01-24 no assertion criteria provided research This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study maternally inherited in a 13-year-old female with glioblastoma and family history of colorectal, uterine, pancreatic, and breast cancers.

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.