Submissions for variant NM_198576.4(AGRN):c.3558T>C (p.Phe1186=)

gnomAD frequency: 0.81774  dbSNP: rs10267

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116264	SCV000150182	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116264	SCV000317041	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116264	SCV000519174	benign	not specified	2016-01-19	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	RCV001520294	SCV001729357	benign	Congenital myasthenic syndrome 8	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520294	SCV001763371	benign	Congenital myasthenic syndrome 8	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004714434	SCV005286882	benign	not provided		criteria provided, single submitter	not provided