Submissions for variant NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)

gnomAD frequency: 0.00152  dbSNP: rs145304925

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000186666	SCV000111973	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000186666	SCV000171913	benign	not specified	2012-02-23	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	RCV000470734	SCV000558522	benign	Early infantile epileptic encephalopathy with suppression bursts	2025-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000186666	SCV000597313	likely benign	not specified	2017-02-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316239	SCV000849517	likely benign	Inborn genetic diseases	2023-07-29	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705743	SCV002821968	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	STXBP1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001705743	SCV005227512	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000610135	SCV005879451	likely benign	Developmental and epileptic encephalopathy, 4	2024-08-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610135	SCV000734641	likely benign	Developmental and epileptic encephalopathy, 4		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705743	SCV001930029	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705743	SCV001975068	likely benign	not provided		no assertion criteria provided	clinical testing