ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4157C>T (p.Pro1386Leu)

dbSNP: rs1277391984
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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 RCV001310317 SCV001500057 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871760 SCV002157170 likely benign Landau-Kleffner syndrome 2024-10-16 criteria provided, single submitter clinical testing

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