Submissions for variant NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)

gnomAD frequency: 0.00006  dbSNP: rs1057522803

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431248	SCV000529557	likely benign	not specified	2016-07-11	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.
Baylor Genetics	RCV001332881	SCV001525323	uncertain significance	Landau-Kleffner syndrome	2019-03-27	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV001332881	SCV001629074	likely benign	Landau-Kleffner syndrome	2024-12-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897904	SCV004712310	likely benign	GRIN2A-related disorder	2023-09-07	no assertion criteria provided	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).