Submissions for variant NM_007325.5(GRIA3):c.159T>C (p.Phe53=)

gnomAD frequency: 0.00091  dbSNP: rs145583732

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000502305	SCV000595039	likely benign	not specified	2015-09-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000881606	SCV001024793	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000881606	SCV001906862	benign	not provided	2020-09-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002404310	SCV002709119	likely benign	Inborn genetic diseases	2014-08-28	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	RCV000881606	SCV005206750	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000881606	SCV001973596	uncertain significance	not provided		no assertion criteria provided	clinical testing