Submissions for variant NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr)

gnomAD frequency: 0.00451  dbSNP: rs11711062

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224393	SCV000280634	benign	not provided	2016-04-01	criteria provided, single submitter	clinical testing
Invitae	RCV001085860	SCV000289559	benign	Brugada syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000428262	SCV000520918	benign	not specified	2016-12-21	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224393	SCV002563759	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	SCN10A: BP4, BS1, BS2
Ambry Genetics	RCV002354624	SCV002622137	likely benign	Cardiovascular phenotype	2019-01-09	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.
PreventionGenetics, part of Exact Sciences	RCV004532821	SCV004733649	likely benign	SCN10A-related disorder	2019-04-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000428262	SCV001925405	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000224393	SCV001955315	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224393	SCV001971876	likely benign	not provided		no assertion criteria provided	clinical testing