ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4625C>T (p.Ser1542Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291138 SCV002583401 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2022-03-01 no assertion criteria provided clinical testing

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