ClinVar Miner

Submissions for variant NM_001291415.1(KDM6A):c.3925G>T (p.Glu1309Ter) (rs1556357274)

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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 RCV000677732 SCV000803889 likely pathogenic Kabuki syndrome 2 2017-08-17 criteria provided, single submitter clinical testing

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