ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1780C>T (p.Pro594Ser)

gnomAD frequency: 0.00003  dbSNP: rs367543140
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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 RCV000530708 SCV000638227 benign Landau-Kleffner syndrome 2023-12-30 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084760 SCV000116896 not provided not provided no assertion provided not provided

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