ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1438G>A (p.Glu480Lys) (rs537874538)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409013 SCV000489735 uncertain significance Multiple endocrine neoplasia, type 2b 2015-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000410596 SCV000489736 uncertain significance Multiple endocrine neoplasia, type 2a 2015-12-04 criteria provided, single submitter clinical testing
Invitae RCV000461515 SCV000556199 likely benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570658 SCV000674799 likely benign Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Other data supporting benign classification
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000758696 SCV000886468 likely pathogenic Hirschsprung disease 1 2019-02-22 criteria provided, single submitter research
Mendelics RCV000410596 SCV001138024 uncertain significance Multiple endocrine neoplasia, type 2a 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121996 SCV000086207 not provided not specified 2013-09-19 no assertion provided reference population

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.