Submissions for variant NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)

gnomAD frequency: 0.00536  dbSNP: rs147990356

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242085	SCV000317065	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000242085	SCV000532854	benign	not specified	2016-11-11	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	RCV000560640	SCV000653955	benign	Congenital myasthenic syndrome 8	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000242085	SCV001880897	benign	not specified	2020-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002262910	SCV002543833	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	AGRN: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV000560640	SCV002806526	likely benign	Congenital myasthenic syndrome 8	2021-07-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002262910	SCV005284350	benign	not provided		criteria provided, single submitter	not provided