ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) (rs138817389)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180188 SCV000232580 benign not specified 2015-06-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000180188 SCV000247508 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000180188 SCV000257726 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717973 SCV000848834 benign History of neurodevelopmental disorder 2019-03-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000913034 SCV001058169 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing
Mendelics RCV000990937 SCV001142007 likely benign Mental retardation, X-linked, syndromic, wu type 2019-05-28 criteria provided, single submitter clinical testing

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