Submissions for variant NM_201596.3(CACNB2):c.1794T>C (p.Ser598=)

gnomAD frequency: 0.00787  dbSNP: rs34503140

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081317	SCV000562841	benign	Brugada syndrome 4	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620685	SCV000735161	benign	Cardiovascular phenotype	2015-08-07	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001081317	SCV000883537	benign	Brugada syndrome 4	2020-05-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001706447	SCV001892000	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706447	SCV005320483	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001699297	SCV001918701	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699297	SCV001956122	benign	not specified		no assertion criteria provided	clinical testing