ClinVar Miner

Submissions for variant 46;XY;t(2;14)(p22;q24.3)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 RCV000258593 SCV000320985 likely pathogenic Coarctation of aorta; Atrial septal defect; Abnormality of cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Muscular hypotonia; Patent ductus arteriosus 2016-08-20 criteria provided, single submitter research

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