ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)

dbSNP: rs104894936
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
Eurofins Ntd Llc (ga) RCV000790835 SCV000227392 pathogenic not provided 2013-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000012400 SCV000894503 pathogenic Allan-Herndon-Dudley syndrome 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000790835 SCV001245774 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
OMIM RCV000012400 SCV000032634 pathogenic Allan-Herndon-Dudley syndrome 2017-06-15 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.