Submissions for variant NM_001134363.3(RBM20):c.774G>A (p.Ser258=)

gnomAD frequency: 0.00006  dbSNP: rs569846404

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156284	SCV000206002	likely benign	not specified	2014-01-31	criteria provided, single submitter	clinical testing	Ser258Ser in exon 2 of RBM20: This variant has not been previously reported in i ndividuals with cardiomyopathy or in large population studies. It is not expect ed to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Ser258Ser in exon2 of RBM20 (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000685870	SCV000813370	likely benign	Dilated cardiomyopathy 1DD	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408695	SCV002674783	likely benign	Cardiovascular phenotype	2021-02-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV000685870	SCV002794959	likely benign	Dilated cardiomyopathy 1DD	2021-09-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000156284	SCV001921278	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723727	SCV001953055	likely benign	not provided		no assertion criteria provided	clinical testing