ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.4096-7del

dbSNP: rs1314985669
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001411041 SCV001613098 likely benign not provided 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV001411041 SCV002009024 uncertain significance not provided 2019-02-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analyses, including splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging

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.