Submissions for variant NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr)

gnomAD frequency: 0.00781  dbSNP: rs111818381

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116271	SCV000317055	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514020	SCV000610743	likely benign	not provided	2017-07-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551508	SCV000653940	benign	Congenital myasthenic syndrome 8	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000116271	SCV000714920	benign	not specified	2018-02-07	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.
CeGaT Center for Human Genetics Tuebingen	RCV000514020	SCV004699146	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	AGRN: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514020	SCV005261869	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116271	SCV000150189	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.