Submissions for variant NM_001032221.6(STXBP1):c.325+8C>T

gnomAD frequency: 0.00310  dbSNP: rs117372398

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080079	SCV000111974	benign	not specified	2013-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000080079	SCV000171903	benign	not specified	2012-03-28	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.
Genetic Services Laboratory, University of Chicago	RCV000080079	SCV000195159	likely benign	not specified	2014-05-27	criteria provided, single submitter	clinical testing
Invitae	RCV001079732	SCV000287895	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080079	SCV000309467	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713556	SCV000844178	benign	not provided	2017-09-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713556	SCV002546081	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	STXBP1: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV000613435	SCV002797310	likely benign	Developmental and epileptic encephalopathy, 4	2022-05-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613435	SCV000734639	likely benign	Developmental and epileptic encephalopathy, 4		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000713556	SCV001929192	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000080079	SCV001973102	benign	not specified		no assertion criteria provided	clinical testing