ClinVar Miner

Submissions for variant NM_000144.5(FXN):c.226A>G (p.Met76Val) (rs59907886)

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
Ambry Genetics RCV000247208 SCV000318432 benign Cardiovascular phenotype 2015-10-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Athena Diagnostics Inc RCV000676783 SCV000842103 benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Invitae RCV000676783 SCV001002052 benign not provided 2017-05-08 criteria provided, single submitter clinical testing
GeneDx RCV000676783 SCV001902785 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676783 SCV000802585 likely benign not provided 2016-02-29 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.