ClinVar Miner

Submissions for variant NM_005105.5(RBM8A):c.479+15G>A

gnomAD frequency: 0.02823  dbSNP: rs114923929
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 RCV001637722 SCV001848582 benign not provided 2019-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072966 SCV002406970 benign Radial aplasia-thrombocytopenia syndrome 2024-01-29 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.