ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1904T>C (p.Val635Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004674037 SCV005093826 likely pathogenic Intellectual disability, autosomal dominant 8 2024-08-05 criteria provided, single submitter clinical testing

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