ClinVar Miner

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

dbSNP: rs2045826576
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Total submissions: 5
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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

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