ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2424G>T (p.Gly808=)

gnomAD frequency: 0.00001  dbSNP: rs1221011995
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000863891 SCV001004620 likely benign Dilated cardiomyopathy 1DD 2023-07-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701455 SCV001924423 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724177 SCV001955242 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724177 SCV001975629 likely benign not provided 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.