ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) (rs587780353)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117178 SCV000151342 likely benign not specified 2013-05-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711852 SCV000842258 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716783 SCV000847626 uncertain significance History of neurodevelopmental disorder 2017-10-27 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000989528 SCV001011206 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989528 SCV001139948 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-05-28 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656052 SCV000588328 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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