ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.693A>C (p.Val231=)

gnomAD frequency: 0.00025  dbSNP: rs201818201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720251 SCV000526991 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000649669 SCV000771498 benign Intellectual disability, autosomal dominant 8 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318457 SCV000851000 likely benign Inborn genetic diseases 2016-05-03 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.
CeGaT Center for Human Genetics Tuebingen RCV001720251 SCV004164003 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing GRIN1: BP4, BP7

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