ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.6C>T (p.Phe2=)

gnomAD frequency: 0.00081  dbSNP: rs749929239
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725409 SCV000336765 uncertain significance not provided 2015-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000341012 SCV000724159 likely benign not specified 2017-11-09 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 RCV001079275 SCV001015112 likely benign Multiple acyl-CoA dehydrogenase deficiency 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272689 SCV001454938 likely benign Glutaric acidemia type 2A 2019-11-11 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.