ClinVar Miner

Submissions for variant 46;XY;t(7;13)(p15.3;q14.1)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 RCV000258641 SCV000320785 pathogenic Pectus excavatum; Global developmental delay; Hemangioma; Synophrys; Narrow mouth; Dolichocephaly; Long eyelashes; Joint hypermobility; Frontal upsweep of hair; Narrow naris; Sydney crease; Muscular hypotonia 2016-08-20 criteria provided, single submitter research

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