Submissions for variant NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=)

gnomAD frequency: 0.00267  dbSNP: rs144944369

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000465829	SCV000558484	benign	Brugada syndrome	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001704572	SCV000714247	likely benign	not provided	2020-12-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704572	SCV002585973	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SCN10A: BP4, BP7
Ambry Genetics	RCV002329118	SCV002629173	likely benign	Cardiovascular phenotype	2019-03-20	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.
Fulgent Genetics, Fulgent Genetics	RCV002489112	SCV002803054	likely benign	Episodic pain syndrome, familial, 2	2021-07-26	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000611774	SCV001922703	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001704572	SCV001953962	likely benign	not provided		no assertion criteria provided	clinical testing