ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2251G>A (p.Gly751Arg) (rs63751119)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561670 SCV000669869 likely pathogenic Hereditary cancer-predisposing syndrome 2017-07-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s)
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076445 SCV000107473 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99

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.