ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.558C>A (p.Val186=)

dbSNP: rs878855317
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
GeneDx RCV000226863 SCV000291935 likely pathogenic not provided 2022-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Also known as V157V; This variant is associated with the following publications: (PMID: 14962902, 23463630, 17053055, 10581030)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000226863 SCV000603441 uncertain significance not provided 2017-05-01 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.