ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) (rs199645176)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155139 SCV000204825 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Cys2019Cys in Exon 39 of LOXHD1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (2/2532) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS).
Illumina Clinical Services Laboratory,Illumina RCV000327437 SCV000408703 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000668608 SCV000793239 likely benign Deafness, autosomal recessive 77 2017-08-07 criteria provided, single submitter clinical testing
Invitae RCV000909898 SCV001054732 likely benign not provided 2019-02-08 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.