Submissions for variant NM_006514.4(SCN10A):c.648A>C (p.Thr216=)

gnomAD frequency: 0.00060  dbSNP: rs150977149

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085940	SCV000558478	benign	Brugada syndrome	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000463743	SCV000716685	likely benign	not provided	2020-04-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000463743	SCV001153922	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	SCN10A: BP4, BP7, BS1
Ambry Genetics	RCV002356737	SCV002655494	likely benign	Cardiovascular phenotype	2019-05-23	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000463743	SCV005260692	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000608988	SCV005886799	benign	not specified	2025-02-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000608988	SCV001923945	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000463743	SCV001956617	likely benign	not provided		no assertion criteria provided	clinical testing