ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1512T>C (p.Thr504=)

gnomAD frequency: 0.00001  dbSNP: rs749683911
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703676 SCV000521643 likely benign not provided 2019-11-06 criteria provided, single submitter clinical testing
Invitae RCV000472944 SCV000543664 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-09-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190850 SCV001358443 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190850 SCV002703657 likely benign Hereditary cancer-predisposing syndrome 2021-02-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004000351 SCV004841030 likely benign Lynch syndrome 2023-04-27 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.