ClinVar Miner

Submissions for variant 46;XY;t(18;20)(q21.1;p11.23)dn

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital RCV000258511 SCV000320989 uncertain significance Epicanthus; Ebstein anomaly of the tricuspid valve; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Secundum atrial septal defect; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae; Square face; Long philtrum; Sclerocornea; Pulmonary artery stenosis; Respiratory failure requiring assisted ventilation; Corneal opacity; Prominent forehead; Mild global developmental delay; Generalized opacification of the cornea; Chin with horizontal crease; Wide nasal base 2016-08-20 criteria provided, single submitter research

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