ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1608-17A>T

gnomAD frequency: 0.00051  dbSNP: rs373063662
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
PreventionGenetics, part of Exact Sciences RCV000252390 SCV000310018 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001651181 SCV001869770 benign not provided 2021-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001651181 SCV003035100 benign not provided 2024-12-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651181 SCV005212891 likely benign not provided criteria provided, single submitter not provided

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.