ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer)

dbSNP: rs1554679726
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677718 SCV000803872 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2015-04-07 criteria provided, single submitter clinical testing

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