Submissions for variant NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)

gnomAD frequency: 0.05156  dbSNP: rs58889246

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147707	SCV000171907	benign	not specified	2012-03-02	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.
PreventionGenetics, part of Exact Sciences	RCV000147707	SCV000309470	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000457484	SCV000558520	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713558	SCV000844180	benign	not provided	2017-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312620	SCV000845905	benign	Inborn genetic diseases	2016-03-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genetic Services Laboratory, University of Chicago	RCV000147707	SCV000195163	likely benign	not specified		no assertion criteria provided	clinical testing