ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) (rs2234938)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152813 SCV000202207 benign not specified 2017-03-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000152813 SCV000246736 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000152813 SCV000532157 benign not specified 2017-01-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000532853 SCV000639995 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720965 SCV000851849 benign History of neurodevelopmental disorder 2017-02-28 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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.