ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) (rs80338676)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178182 SCV000230197 uncertain significance not provided 2014-07-07 criteria provided, single submitter clinical testing
GeneReviews RCV000010614 SCV000040928 pathologic Arts syndrome 2010-11-18 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000010614 SCV000030840 pathogenic Arts syndrome 2007-09-01 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.