ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3173-433_3556+228del

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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074813 SCV000108024 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research In-frame large deletion interrupting lever & ATPase domain [pmid:22232658 Schopf:2012]

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.