ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)

dbSNP: rs63751682
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075452 SCV000106449 uncertain significance Lynch syndrome 1 2018-06-13 reviewed by expert panel curation Variant reclassification: MLH1 methylation not tested in tumour

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.