ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) (rs145063086)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716120 SCV000846955 uncertain significance History of neurodevelopmental disorder 2016-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514244 SCV000609881 likely benign not provided 2017-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514244 SCV000341357 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000187665 SCV000241262 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000187665 SCV000247527 uncertain significance not specified 2015-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309897 SCV000400141 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000309897 SCV000638247 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-12-18 criteria provided, single submitter clinical testing
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000417003 SCV000494553 uncertain significance Focal epilepsy 2016-11-16 criteria provided, single submitter clinical testing

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