ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3192G>A (p.Thr1064=)

gnomAD frequency: 0.00002  dbSNP: rs748790515
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
CeGaT Center for Human Genetics Tuebingen RCV000513054 SCV000608750 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing GRIN2A: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003766894 SCV004695607 benign Landau-Kleffner syndrome 2023-01-10 criteria provided, single submitter clinical testing

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