ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.705C>T (p.Ala235=)

gnomAD frequency: 0.00006  dbSNP: rs201343933
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488242 SCV000575608 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318591 SCV000850171 likely benign Inborn genetic diseases 2016-09-01 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.
Invitae RCV001081647 SCV001007538 likely benign Intellectual disability, autosomal dominant 8 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535541 SCV004753243 likely benign GRIN1-related disorder 2019-05-31 criteria provided, single submitter 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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