Submissions for variant NM_001037.5(SCN1B):c.448+29C>T

gnomAD frequency: 0.00163  dbSNP: rs186759145

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127904	SCV000171490	benign	not specified	2013-10-15	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457379	SCV000557249	benign	Brugada syndrome 5	2025-01-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000127904	SCV005204330	benign	not specified	2024-06-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001701764	SCV005314860	benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV001701764	SCV005431981	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SCN1B: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000127904	SCV001925501	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701764	SCV001927444	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701764	SCV001957387	likely benign	not provided		no assertion criteria provided	clinical testing