Submissions for variant NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)

gnomAD frequency: 0.00284  dbSNP: rs2799068

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238604	SCV000297407	uncertain significance	not specified	2015-09-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001093297	SCV000564550	likely benign	not provided	2020-10-05	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24791904)
Genetic Services Laboratory, University of Chicago	RCV000238604	SCV000593075	uncertain significance	not specified	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000548184	SCV000653943	likely benign	Congenital myasthenic syndrome 8	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001093297	SCV001250209	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	AGRN: BS2
PreventionGenetics, part of Exact Sciences	RCV003920005	SCV004731133	likely benign	AGRN-related condition	2020-03-24	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).