Submissions for variant NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser)

gnomAD frequency: 0.00005  dbSNP: rs145162376

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000651366	SCV000773217	likely benign	Congenital myasthenic syndrome 8	2023-11-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953184	SCV004785811	likely benign	AGRN-related condition	2023-02-15	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).
Department of Neurology, Xiangya Hospital Central South University	RCV000651366	SCV001916959	pathogenic	Congenital myasthenic syndrome 8	2021-09-22	no assertion criteria provided	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV003483703	SCV004228715	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Likely benign and reported on 03-04-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.