Submissions for variant NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)

gnomAD frequency: 0.00006  dbSNP: rs370249358

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516890	SCV000615517	benign	not specified	2017-01-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726837	SCV000703524	uncertain significance	not provided	2016-12-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000726837	SCV000730119	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080534	SCV000758026	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317864	SCV000850466	likely benign	Inborn genetic diseases	2017-02-01	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	RCV000726837	SCV001962570	likely benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing