Submissions for variant NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu)

gnomAD frequency: 0.00005  dbSNP: rs200802985

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000713555	SCV000243228	benign	not provided	2019-09-09	criteria provided, single submitter	clinical testing
Invitae	RCV001080320	SCV000633897	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2023-12-11	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713555	SCV000844177	benign	not provided	2018-04-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317655	SCV000851244	likely benign	Inborn genetic diseases	2016-09-22	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	RCV000713555	SCV004160744	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	STXBP1: PP2, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004553037	SCV004773970	likely benign	STXBP1-related disorder	2023-12-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).