ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.668-11T>G

gnomAD frequency: 0.00001  dbSNP: rs1469889617
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581234 SCV000691426 likely benign Hereditary cancer-predisposing syndrome 2016-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001546100 SCV001765554 likely benign not provided 2019-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530805 SCV003284260 likely benign Juvenile polyposis syndrome 2024-09-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002380 SCV004815817 likely benign Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2023-02-24 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.