ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1271C>A (p.Pro424His)

gnomAD frequency: 0.00003  dbSNP: rs375260513
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794220 SCV000933614 likely benign Landau-Kleffner syndrome 2023-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091976 SCV001248297 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing

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