ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.761dup (p.Asp255fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004693 SCV001164154 pathogenic Intellectual disability, autosomal dominant 5 2017-07-12 criteria provided, single submitter clinical testing

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