ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.610G>A (p.Val204Met)

gnomAD frequency: 0.00009  dbSNP: rs140422926
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056494 SCV001220937 likely benign Intellectual disability, autosomal dominant 8 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001664648 SCV001874236 likely benign not provided 2020-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553816 SCV003541198 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing Unlikely to be causative of GRIN1-related neurodevelopmental disorder (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001664648 SCV003815174 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001664648 SCV004032909 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing GRIN1: PM2, PP2

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