Submissions for variant NM_006514.4(SCN10A):c.5605C>T (p.Arg1869Cys)

dbSNP: rs141648641

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001700131	SCV000568359	benign	not provided	2019-05-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27711072, 26733327, 24998131, 29016797, 30821013, 32948286)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542355	SCV000637038	likely benign	Brugada syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350062	SCV002648349	benign	Cardiovascular phenotype	2019-03-02	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.
CeGaT Center for Human Genetics Tuebingen	RCV001700131	SCV003916432	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	SCN10A: BS1
Clinical Genetics, Academic Medical Center	RCV001700131	SCV001922115	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700131	SCV001952237	likely benign	not provided		no assertion criteria provided	clinical testing