Submissions for variant NM_000827.4(GRIA1):c.1453-4T>C

gnomAD frequency: 0.00045  dbSNP: rs149493618

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957861	SCV001104680	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002547262	SCV003548457	likely benign	Inborn genetic diseases	2022-11-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV000957861	SCV005226622	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003903311	SCV004720472	benign	GRIA1-related disorder	2019-10-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).