ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=)

gnomAD frequency: 0.00001  dbSNP: rs748745866
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001439029 SCV001641910 likely benign not provided 2023-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001439029 SCV004811574 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing EIF2B5: BP4, BP7
Natera, Inc. RCV001836405 SCV002079149 likely benign Vanishing white matter disease 2021-09-10 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.