ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) (rs35007621)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041192 SCV000064883 benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Val581Ala in Exon 13 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 2.2% (61/2758) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs35007621).
Counsyl RCV000666124 SCV000790367 likely benign Deafness, autosomal recessive 77 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000969104 SCV001116597 benign not provided 2019-03-05 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.