ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=)

dbSNP: rs367543126
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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 RCV000501793 SCV000595059 likely benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316287 SCV000850004 likely benign Inborn genetic diseases 2016-05-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001083103 SCV001007421 likely benign Landau-Kleffner syndrome 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000084746 SCV004141113 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing GRIN2A: BP4, BP7
Psychiatry Genetics Yale University RCV000084746 SCV000116882 not provided not provided no assertion provided not provided

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