Submissions for variant NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)

gnomAD frequency: 0.00866  dbSNP: rs141309384

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174911	SCV000226309	benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174911	SCV000311662	likely benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000174911	SCV000540478	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1.6% of total chromosomes in ExAC, 2.7% (44/1612) of Latino chromosomes
Genetic Services Laboratory, University of Chicago	RCV000174911	SCV000597326	likely benign	not specified	2017-02-14	criteria provided, single submitter	clinical testing
Invitae	RCV000552531	SCV000648528	benign	Familial hemophagocytic lymphohistiocytosis 5	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000552531	SCV001140967	benign	Familial hemophagocytic lymphohistiocytosis 5	2019-05-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262768	SCV002542982	likely benign	Autoinflammatory syndrome	2022-04-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003416073	SCV004146480	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	STXBP2: BP4, BS1, BS2