Submissions for variant NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)

dbSNP: rs137886839

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001706106	SCV000223429	benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28469501, 28614222)
Ambry Genetics	RCV000245105	SCV000320295	benign	Cardiovascular phenotype	2016-08-03	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458519	SCV000562848	benign	Brugada syndrome 4	2025-01-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000458519	SCV000743845	benign	Brugada syndrome 4	2017-10-13	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852602	SCV000995305	likely benign	Cardiomyopathy	2018-02-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000458519	SCV001159102	likely benign	Brugada syndrome 4	2018-07-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000458519	SCV002796724	likely benign	Brugada syndrome 4	2021-09-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706106	SCV001923633	likely benign	not provided		no assertion criteria provided	clinical testing