ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1340A>T (p.Asn447Ile)

gnomAD frequency: 0.00001  dbSNP: rs367543145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000084765 SCV000858293 uncertain significance not provided 2017-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034014 SCV001197339 likely benign Landau-Kleffner syndrome 2024-10-20 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084765 SCV000116901 not provided not provided no assertion provided not provided

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