ClinVar Miner

Submissions for variant NM_020975.4:c.[1900T>C];[1946C>T]

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000664369 SCV000788295 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only p.S649L was found in trans with p.C634R in a single Polish MEN2A patient, genotype c.[1900T>C];[1946C>T]. For reports of p.S649L alone, see c.1946C>T.

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.