Submissions for variant NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)

gnomAD frequency: 0.01028  dbSNP: rs117761837

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174565	SCV000225885	benign	not specified	2015-04-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174565	SCV000311656	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000174565	SCV000540477	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: Reported in 1 patient with
Invitae	RCV000533997	SCV000648524	benign	Familial hemophagocytic lymphohistiocytosis 5	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000174565	SCV002050972	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262767	SCV002542975	benign	Autoinflammatory syndrome	2022-04-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529463	SCV003918049	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	STXBP2: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529463	SCV001742969	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529463	SCV001931726	likely benign	not provided		no assertion criteria provided	clinical testing