ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-41A>G

gnomAD frequency: 0.00005  dbSNP: rs1211077933
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
Color Diagnostics, LLC DBA Color Health RCV000583789 SCV000690566 likely benign Hereditary cancer-predisposing syndrome 2017-04-30 criteria provided, single submitter clinical testing
Invitae RCV000975667 SCV001123555 likely benign Familial adenomatous polyposis 2 2023-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543290 SCV004772328 likely benign MUTYH-related disorder 2022-04-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.