Submissions for variant NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys)

gnomAD frequency: 0.00217  dbSNP: rs151153639

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704001	SCV000521398	likely benign	not provided	2021-02-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28078312, 28407228)
Invitae	RCV000468209	SCV000558473	benign	Brugada syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000419590	SCV000700598	benign	not specified	2013-08-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390239	SCV002696886	likely benign	Cardiovascular phenotype	2019-07-08	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.
Clinical Genetics, Academic Medical Center	RCV000419590	SCV002034478	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001704001	SCV002037321	likely benign	not provided		no assertion criteria provided	clinical testing