ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg)

dbSNP: rs886037914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000256187 SCV000299289 likely benign Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome no assertion criteria provided clinical testing

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