ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1545-7del (rs727503427)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151901 SCV000200408 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 1545-7delC vari ant in SLC26A4 has not been previously reported in individuals with hearing loss or in large population studies. This variant is located in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. In summary, the clin ical significance of the 1547-7delC variant is uncertain.
Invitae RCV000931069 SCV001076732 likely benign not provided 2020-11-25 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.