ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer)

dbSNP: rs797044606
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
Revvity Omics, Revvity RCV001781571 SCV002018273 pathogenic not provided 2019-09-18 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000193542 SCV000223940 likely pathogenic Nemaline myopathy 2 2014-10-01 no assertion criteria provided 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.