ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) (rs281875320)

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
OMIM RCV000023062 SCV000044353 pathogenic Myhre syndrome 2011-12-11 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059735 SCV000091305 not provided not provided no assertion provided not provided
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) RCV000023062 SCV000106025 pathogenic Myhre syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneReviews RCV000023062 SCV000564088 pathogenic Myhre syndrome 2017-01-31 no assertion criteria provided literature only

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.