ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1162A>G (p.Ile388Val) (rs115395163)

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 RCV000220785 SCV000270365 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing p.Ile388Val in exon 9 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (10/2744) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs115395163).
Invitae RCV000898095 SCV001042281 likely benign not provided 2018-07-23 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.