Submissions for variant NM_001032221.6(STXBP1):c.247-8A>G

gnomAD frequency: 0.00325  dbSNP: rs199827018

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147703	SCV000171902	benign	not specified	2013-02-04	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	RCV000147703	SCV000195158	likely benign	not specified	2015-06-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147703	SCV000231044	benign	not specified	2015-02-16	criteria provided, single submitter	clinical testing
Invitae	RCV000233301	SCV000287894	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000147703	SCV001879865	benign	not specified	2020-09-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705923	SCV002498045	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	STXBP1: BP4, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609695	SCV000734638	likely benign	Developmental and epileptic encephalopathy, 4		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705923	SCV001927089	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705923	SCV001971767	likely benign	not provided		no assertion criteria provided	clinical testing