ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1904T>G (p.Val635Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883384 SCV004697803 pathogenic Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 criteria provided, single submitter clinical testing

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