Submissions for variant NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)

dbSNP: rs2045826576

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001570548	SCV001794862	pathogenic	not provided	2019-10-01	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV001570548	SCV002061709	uncertain significance	not provided	2021-11-17	criteria provided, single submitter	clinical testing	PM2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	RCV001843576	SCV002103067	likely pathogenic	Syndromic X-linked intellectual disability 94	2021-09-20	criteria provided, single submitter	clinical testing	PS2, PM2, PP2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV001264709	SCV001442892	uncertain significance	Neurodevelopmental abnormality	2020-04-03	no assertion criteria provided	clinical testing
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	RCV001843576	SCV002575084	uncertain significance	Syndromic X-linked intellectual disability 94		no assertion criteria provided	provider interpretation