ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4354C>T (p.Arg1452Cys)

gnomAD frequency: 0.00001  dbSNP: rs568622613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002557525 SCV002974149 likely benign Landau-Kleffner syndrome 2024-02-03 criteria provided, single submitter clinical testing
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001450015 SCV001653521 likely benign Intellectual disability 2021-06-02 no assertion criteria provided clinical testing The c.4354C>T was identified twice and each time was inherited from one of the parents ((who were asymptomatic)

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