ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1265T>C (p.Ile422Thr)

gnomAD frequency: 0.00001  dbSNP: rs372628324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730547 SCV000858292 uncertain significance not provided 2017-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001323819 SCV001514751 likely benign Landau-Kleffner syndrome 2023-08-17 criteria provided, single submitter clinical testing

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