Submissions for variant NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=)

gnomAD frequency: 0.00431  dbSNP: rs151182542

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000604833	SCV000714773	benign	not specified	2017-02-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000638762	SCV000760310	benign	Brugada syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002331035	SCV002634281	benign	Cardiovascular phenotype	2018-12-28	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	RCV001724076	SCV004154204	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	SCN10A: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000604833	SCV005184571	benign	not specified	2024-05-26	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000604833	SCV001923733	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724076	SCV001951862	likely benign	not provided		no assertion criteria provided	clinical testing