ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.700G>A (p.Ala234Thr)

gnomAD frequency: 0.00001  dbSNP: rs1464941427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002188752 SCV002481976 benign Intellectual disability, autosomal dominant 8 2023-07-10 criteria provided, single submitter clinical testing
GeneDx RCV003314721 SCV004014312 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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