ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) (rs2959656)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082334 SCV000114297 benign not specified 2014-09-18 criteria provided, single submitter clinical testing
Endocrine Unit 2,University Hospital of Pisa RCV000210359 SCV000246275 uncertain significance Primary hyperparathyroidism 2015-01-01 criteria provided, single submitter research
Invitae RCV001084452 SCV000262397 benign Multiple endocrine neoplasia, type 1 2020-12-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283564 SCV000604204 benign none provided 2020-07-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000034785 SCV000842744 benign not provided 2017-10-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034785 SCV000043284 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.

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.