ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile)

gnomAD frequency: 0.00006  dbSNP: rs367543124
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194289 SCV000247531 uncertain significance not specified 2014-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000194289 SCV000613551 uncertain significance not specified 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000703188 SCV000832076 likely benign Landau-Kleffner syndrome 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362736 SCV002658659 likely benign Inborn genetic diseases 2019-07-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Psychiatry Genetics Yale University RCV000084744 SCV000116880 not provided not provided no assertion provided not provided

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