ClinVar Miner

Submissions for variant NM_021083.4(XK):c.880T>C (p.Cys294Arg)

dbSNP: rs28933690
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010422 SCV000030648 pathogenic McLeod neuroacanthocytosis syndrome 2001-12-01 no assertion criteria provided literature only
GeneReviews RCV000010422 SCV001981683 not provided McLeod neuroacanthocytosis syndrome no assertion provided literature only This reported XK missense variant predicted to disrupt either structure or function

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.