ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.482T>A (p.Val161Asp) (rs63750126)

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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076607 SCV000107643 pathogenic Lynch syndrome I 2018-03-09 reviewed by expert panel curation Class 5 - Pathogenic Classification using multifactorial probability: 0.9977
Ambry Genetics RCV000490837 SCV000580568 pathogenic Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Deficient protein function in appropriate functional assay(s);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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.