ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter)

dbSNP: rs1211232252
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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 Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province RCV002222066 SCV001981506 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2021-10-01 no assertion criteria provided clinical testing KAT6A mutaiton related development disorders have been reported by several studies. It provides a new mutation site for kat6a related syndrome.

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