ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)

gnomAD frequency: 0.57798  dbSNP: rs502434
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312118 SCV000846186 benign Inborn genetic diseases 2015-06-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
GeneDx RCV001668239 SCV001883968 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701600 SCV001933958 benign Syndromic X-linked intellectual disability 94 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001668239 SCV002343304 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117156 SCV000151320 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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