ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs)

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
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro RCV003320438 SCV004024456 likely pathogenic Lynch syndrome 1 2023-04-04 criteria provided, single submitter clinical testing The c.2291_2297del is a deletion of seven nucleotides that generates a frameshift variant with a premature stop codon. This variant is not present in gnomAD database.

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.