ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter)

dbSNP: rs1821661078
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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 RCV001264751 SCV001442985 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2020-04-03 no assertion criteria provided clinical testing

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