ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del)

dbSNP: rs1057519248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416220 SCV000493701 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468574 SCV002764729 likely pathogenic Landau-Kleffner syndrome 2020-11-13 criteria provided, single submitter clinical testing

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