ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)

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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 RCV001375857 SCV001572784 uncertain significance Hypertelorism; Congenital cleft nose; Low-set ears; Facial cleft; Facial asymmetry; Upper eyelid coloboma; Epibulbar dermoid; Lipoma of corpus callosum; Skin tags; Abnormality of the frontal bone criteria provided, single submitter clinical testing

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