ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)

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Total submissions: 1
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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 RCV003127348 SCV003803915 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2022-06-14 criteria provided, single submitter clinical testing

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