ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro)

dbSNP: rs534440095
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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 RCV000794217 SCV000933611 benign Landau-Kleffner syndrome 2023-06-14 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252252 SCV001428004 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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