ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1244T>G (p.Val415Gly) (rs529972175)

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 RCV000217673 SCV000270367 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing p.Val415Gly in exon 9 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.44% (12/2730) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727376 SCV000707996 uncertain significance not provided 2017-04-26 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.