ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) (rs373924055)

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
Counsyl RCV000666255 SCV000790515 likely benign Deafness, autosomal recessive 77 2017-03-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726427 SCV000344550 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041215 SCV000064906 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing p.Gly1709Gly in exon 33 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.2% (18/8740) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org).

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.