ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.679G>C (p.Asp227His) (rs869312865)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210389 SCV000258441 likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760222 SCV000890052 likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 2016-04-05 criteria provided, single submitter clinical testing
OMIM RCV000576889 SCV000678282 pathogenic NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 2018-02-22 no assertion criteria provided literature only

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