ClinVar Miner

Submissions for variant 46;XY;t(10;17)(p13;q23)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 RCV000258785 SCV000320978 uncertain significance Cleft of soft palate; Robin sequence; Global developmental delay; Retrognathia; Feeding difficulties; Open mouth; Microretrognathia; Facial asymmetry; Pectus carinatum; Hypoplastic scapulae; Abnormality of the costochondral junction; Neonatal hypotonia; Hypoplasia of deltoid muscle; Abnormality of the occipital bone 2016-08-20 criteria provided, single submitter research

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