ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.136G>A (p.Val46Met)

gnomAD frequency: 0.00004  dbSNP: rs796052542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187634 SCV000241231 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001234576 SCV001407229 likely benign Landau-Kleffner syndrome 2024-10-23 criteria provided, single submitter clinical testing

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