ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1545-14_1545-12del

dbSNP: rs397516419
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036446 SCV000060101 likely benign not specified 2012-03-22 criteria provided, single submitter clinical testing 1545-14_1545-12delATT in intron 13 of SLC26A4: This variant is not expected to h ave clinical significance because it does not cause the splice site to diverge f rom consensus.
GeneDx RCV001570671 SCV001795005 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Invitae RCV001570671 SCV002437017 benign not provided 2024-01-31 criteria provided, single submitter 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.