ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3596del (p.Gly1199fs)

dbSNP: rs1554680188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677719 SCV000803873 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2017-07-11 criteria provided, single submitter clinical testing

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