ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn)

dbSNP: rs121912965
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075101 SCV000106088 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
OMIM RCV000018639 SCV000038922 pathogenic Mismatch repair cancer syndrome 1 2007-06-01 no assertion criteria provided literature only
OMIM RCV000018640 SCV000038923 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2007-06-01 no assertion criteria provided literature only

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.