ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2551G>A (p.Gly851Ser) (rs1569084151)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735395 SCV000854550 uncertain significance Global developmental delay; Seizures; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate criteria provided, single submitter clinical testing

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