Submissions for variant NM_004281.4(BAG3):c.483G>A (p.Gln161=)

gnomAD frequency: 0.00003  dbSNP: rs758279156

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001412097	SCV001614173	likely benign	Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH	2023-10-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004038087	SCV005021591	likely benign	Cardiovascular phenotype	2023-10-27	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.
CeGaT Center for Human Genetics Tuebingen	RCV001529803	SCV005051153	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	BAG3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001529803	SCV005220224	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529803	SCV001743898	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699541	SCV001917917	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529803	SCV001932639	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529803	SCV001951162	likely benign	not provided		no assertion criteria provided	clinical testing