ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.130+4C>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825360 SCV000966655 uncertain significance not specified 2018-08-22 criteria provided, single submitter clinical testing The c.130+4C>A variant in LOXHD1 has not been previously reported in individuals with hearing loss and was absent from large population studies. This variant is located in the 5' splice region. Computational tools do not suggest an impact t o splicing, though this information is not predictive enough to rule out pathoge nicity. In summary, the clinical significance of the c.130+4C>A variant is uncer tain. ACMG/AMP Criteria applied: BP4.

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.