ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2103+3A>G (rs587778976)

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
Ambry Genetics RCV000217603 SCV000276974 likely pathogenic Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,RNA Studies,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075532 SCV000106529 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507658 SCV000601388 uncertain significance not specified 2016-08-09 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.