Submissions for variant NM_001040151.2(SCN3B):c.570A>G (p.Ala190=)

gnomAD frequency: 0.00005  dbSNP: rs575419664

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001462087	SCV001665998	likely benign	Brugada syndrome 7	2024-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350939	SCV002650108	likely benign	Cardiovascular phenotype	2018-04-04	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.
Clinical Genetics, Academic Medical Center	RCV001699790	SCV001923448	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702099	SCV001928508	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001702099	SCV001956451	likely benign	not provided		no assertion criteria provided	clinical testing