ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)

gnomAD frequency: 0.00025  dbSNP: rs782268170
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000818218 SCV000958819 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001552958 SCV001773740 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415920 SCV002730006 benign Inborn genetic diseases 2022-04-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001552958 SCV003834464 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000818218 SCV001457709 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-09-16 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.