ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) (rs751455326)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambulatório de Genética Médica,Hospital Escola da Universidade Federal de Pelotas RCV000585832 SCV000622118 likely pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2017-12-20 criteria provided, single submitter clinical testing Patient with this de novo variant (parents tested) shows the compatible clinical phenotype, including epilepsy and developmental delay.
Mendelics RCV000585832 SCV001139944 likely pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2019-05-28 criteria provided, single submitter clinical testing

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