ClinVar Miner

Submissions for variant 46;XY;t(9;14)(p21;q12)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 RCV000258597 SCV000320862 uncertain significance Velopharyngeal insufficiency; Pulmonary hypoplasia; Epistaxis; Hypernasal speech; Speech apraxia; Recurrent otitis media; Autism with high cognitive abilities; Abnormality of the respiratory system; Bilateral lung agenesis; Asthma 2016-08-20 criteria provided, single submitter research

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