Submissions for variant NM_198576.4(AGRN):c.6074A>G (p.His2025Arg)

gnomAD frequency: 0.00151  dbSNP: rs377296839

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591415	SCV000707871	likely benign	not specified	2017-04-17	criteria provided, single submitter	clinical testing
Invitae	RCV000865301	SCV001006243	benign	Congenital myasthenic syndrome 8	2024-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002532595	SCV003529370	likely benign	Inborn genetic diseases	2021-09-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003311855	SCV004009710	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	AGRN: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003905549	SCV004726724	likely benign	AGRN-related condition	2019-06-11	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).