ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2377G>T (p.Val793Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285197 SCV002574937 likely pathogenic Intellectual disability, autosomal dominant 8 2022-09-16 criteria provided, single submitter clinical testing

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