ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter)

dbSNP: rs755669455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002267794 SCV002549914 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2022-07-23 criteria provided, single submitter clinical testing

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