Submissions for variant NM_004281.4(BAG3):c.1503C>A (p.Val501=)

gnomAD frequency: 0.00089  dbSNP: rs147277075

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420165	SCV000512232	benign	not specified	2016-04-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000476632	SCV000561197	benign	Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620374	SCV000737305	likely benign	Cardiovascular phenotype	2017-09-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001723981	SCV001471638	likely benign	not provided	2019-08-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000476632	SCV002807127	benign	Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH	2021-08-24	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486827	SCV004239658	benign	Cardiomyopathy	2023-04-24	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000420165	SCV001925649	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723981	SCV001953233	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723981	SCV001974009	likely benign	not provided		no assertion criteria provided	clinical testing