ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV000851490 SCV000994543 likely pathogenic Intellectual disability 2016-05-17 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281637 SCV001468975 pathogenic not provided criteria provided, single submitter clinical testing

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