ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466339 SCV002761293 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2022-02-03 criteria provided, single submitter clinical testing

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