ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)

dbSNP: rs72554652
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
Genetic Services Laboratory, University of Chicago RCV000012555 SCV000246696 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000012555 SCV000032789 pathogenic Menkes kinky-hair syndrome 2002-11-15 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000012555 SCV004011789 uncertain significance Menkes kinky-hair syndrome 2016-01-06 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.