ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.848C>T (p.Thr283Ile)

gnomAD frequency: 0.00026  dbSNP: rs189183599
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
Mayo Clinic Laboratories, Mayo Clinic RCV001507943 SCV001713801 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001507943 SCV002389430 benign not provided 2024-12-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001507943 SCV004124794 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing EPB41: BS1

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.