ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)

gnomAD frequency: 0.00001  dbSNP: rs782455461
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
Invitae RCV000797169 SCV000936714 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835963 SCV002089070 uncertain significance Menkes kinky-hair syndrome 2021-01-27 no assertion criteria provided clinical testing

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.