ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys)

gnomAD frequency: 0.00001  dbSNP: rs551819918
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540882 SCV000648364 benign Dilated cardiomyopathy 1DD 2023-07-28 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000540882 SCV001425414 uncertain significance Dilated cardiomyopathy 1DD 2020-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000540882 SCV002780061 uncertain significance Dilated cardiomyopathy 1DD 2021-10-06 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.