ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.870+4T>C (rs166850)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000081773 SCV000170836 benign not specified 2012-10-22 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081773 SCV000203167 benign not specified 2014-01-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081773 SCV000315377 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275012 SCV000442622 benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576690 SCV000677374 benign Dominant hereditary optic atrophy 2017-04-27 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676694 SCV000802491 benign not provided 2016-02-19 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.