ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) (rs138809301)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658737 SCV000780525 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000187680 SCV000241277 benign not specified 2017-11-28 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 RCV000187680 SCV000595061 likely benign not specified 2015-12-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378987 SCV000400151 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000378987 SCV000638242 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2018-01-05 criteria provided, single submitter clinical testing

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