ClinVar Miner

Submissions for variant NM_000836.4(GRIN2D):c.2024C>T (p.Ala675Val)

dbSNP: rs1600982197
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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 RCV000996955 SCV001151970 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Pediatric EEG Lab, Tongji Hospital, Huazhong University of Science and Technology RCV002291220 SCV002576799 pathogenic Developmental and epileptic encephalopathy, 46 criteria provided, single submitter research

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