ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr)

dbSNP: rs1587706129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791034 SCV000930301 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-04-27 criteria provided, single submitter clinical testing

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