ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.307-19A>G (rs121909451)

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) RCV000075640 SCV000106647 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Intronic variant with no effect on splicing & MAF 0.01-1%
GeneDx RCV000157756 SCV000170285 benign not specified 2013-12-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000579744 SCV000684818 benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Narod's Lab, University of Toronto RCV000059814 SCV000091384 not provided not provided no assertion provided not provided

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.