ClinVar Miner

Submissions for variant NM_016024.4(RBMX2):c.860G>A (p.Arg287His)

gnomAD frequency: 0.00293  dbSNP: rs5977266
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
Breakthrough Genomics, Breakthrough Genomics RCV004703456 SCV005206778 likely benign not provided criteria provided, single submitter not provided
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201403 SCV000239951 benign Abnormality of neuronal migration 2014-10-31 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.