ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1232G>A (p.Arg411His) (rs192255604)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224867 SCV000281188 likely benign not provided 2015-06-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000376395 SCV000333348 likely benign not specified 2015-08-07 criteria provided, single submitter clinical testing
Invitae RCV001080695 SCV001016920 benign Marinesco-Sjögren syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224867 SCV001145633 benign not provided 2019-05-20 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.