ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1276+47T>A

gnomAD frequency: 0.00019  dbSNP: rs148018406
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076092 SCV000107106 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1% in Asian population
Counsyl RCV000409253 SCV000487883 likely benign Lynch syndrome 1 2015-11-24 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267840 SCV002552224 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000409253 SCV004015943 likely benign Lynch syndrome 1 2023-07-07 criteria provided, single submitter clinical testing

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.