ClinVar Miner

Submissions for variant NM_020975.6(RET):c.539G>A (p.Arg180Gln) (rs370736139)

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
CSER_CC_NCGL; University of Washington Medical Center RCV000148786 SCV000190524 uncertain significance Hirschsprung disease 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Counsyl RCV000412078 SCV000489769 uncertain significance Multiple endocrine neoplasia, type 2b 2015-12-18 criteria provided, single submitter clinical testing
Counsyl RCV000410075 SCV000489770 uncertain significance Multiple endocrine neoplasia, type 2a 2015-12-18 criteria provided, single submitter clinical testing
Invitae RCV000197537 SCV000253568 likely benign Multiple endocrine neoplasia, type 2 2017-12-09 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.