ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) (rs1575536219)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010451 SCV001170651 pathogenic Hereditary cancer-predisposing syndrome 2019-04-11 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Ding PR Lab,Sun Yat-sen University Cancer Center RCV001093672 SCV001250853 likely pathogenic Lynch syndrome I no assertion criteria provided 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.