ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.367-?_1076+?del

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) RCV000076582 SCV000107608 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV000477664 SCV000299126 pathogenic Lynch syndrome 2016-11-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-6 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Gross deletions in MSH2 are known to be pathogenic. Deletions of exon 3-6 have been reported in the literature in two Lynch syndrome families (PMID: 16251890, 16451135). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000076582 SCV000590989 pathogenic Lynch syndrome 2013-08-26 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.