ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) (rs869320687)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224178 SCV000280618 pathogenic not provided 2016-04-27 criteria provided, single submitter clinical testing
OMIM RCV000191030 SCV000246010 pathogenic Noonan syndrome 9 2015-06-01 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV000845122 SCV000987058 likely pathogenic Noonan syndrome 2015-08-03 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.