ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) (rs139310551)

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
ITMI	RCV000162342	SCV000212644	pathogenic	Rubinstein-Taybi syndrome 2	2015-03-09	criteria provided, single submitter	research

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.