Submissions for variant NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)

gnomAD frequency: 0.00001  dbSNP: rs876657970

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221722	SCV000272347	uncertain significance	not specified	2015-06-22	criteria provided, single submitter	clinical testing	The p.Met338Thr variant in RBM20 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Met338Thr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Met338Th r variant is uncertain.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852629	SCV000995333	likely benign	Primary dilated cardiomyopathy	2019-05-14	criteria provided, single submitter	clinical testing
Invitae	RCV001206594	SCV001377909	likely benign	Dilated cardiomyopathy 1DD	2024-01-04	criteria provided, single submitter	clinical testing
University of Washington Center for Mendelian Genomics, University of Washington	RCV000852629	SCV001434753	uncertain significance	Primary dilated cardiomyopathy		no assertion criteria provided	research