ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)

gnomAD frequency: 0.00039  dbSNP: rs143594020
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725513 SCV000337420 uncertain significance not provided 2015-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000725513 SCV000715458 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086883 SCV000761180 likely benign Landau-Kleffner syndrome 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317811 SCV000851760 likely benign Inborn genetic diseases 2016-07-12 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.
PreventionGenetics, part of Exact Sciences RCV003909965 SCV004720782 likely benign GRIN2A-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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