ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) (rs77705198)

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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 RCV000720478 SCV000851355 likely benign History of neurodevelopmental disorder 2016-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000290904 SCV000733560 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733423 SCV000861491 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000117183 SCV000168761 benign not specified 2014-03-20 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 RCV000117183 SCV000151347 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000290904 SCV000743903 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290904 SCV000400155 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000290904 SCV000562543 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-11-22 criteria provided, single submitter clinical testing

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