ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.525G>A (p.Ala175=)

gnomAD frequency: 0.00163  dbSNP: rs77812749
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232465 SCV000289851 benign Intellectual disability, autosomal dominant 8 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000616760 SCV000730814 benign not specified 2017-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002313944 SCV000847890 likely benign Inborn genetic diseases 2016-07-08 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.
CeGaT Center for Human Genetics Tuebingen RCV003437028 SCV004164001 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing GRIN1: BP4, BP7

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