Submissions for variant NM_001032221.6(STXBP1):c.38-3T>C

gnomAD frequency: 0.01315  dbSNP: rs138763389

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147704	SCV000171901	benign	not specified	2012-03-30	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	RCV000230972	SCV000287896	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713557	SCV000844179	benign	not provided	2017-09-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312619	SCV000845962	benign	Inborn genetic diseases	2016-02-25	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000713557	SCV005321178	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000147704	SCV000195160	likely benign	not specified		no assertion criteria provided	clinical testing