ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) (rs77029288)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187670 SCV000241267 benign not specified 2017-01-11 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723931 SCV000331608 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287434 SCV000400138 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000187670 SCV000595064 uncertain significance not specified 2015-12-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000187670 SCV000613550 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV000723931 SCV000638250 likely benign not provided 2019-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623372 SCV000740740 likely benign Inborn genetic diseases 2016-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000287434 SCV000743902 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2015-12-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000287434 SCV000745335 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719117 SCV000849981 likely benign History of neurodevelopmental disorder 2017-12-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,In silico models in agreement (benign)
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000287434 SCV000733559 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation no assertion criteria provided clinical testing

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