ClinVar Miner

Submissions for variant 46;X;t(X;5)(p11.23;q35)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 RCV000258728 SCV000320763 pathogenic Pectus excavatum; Global developmental delay; Failure to thrive; Hearing impairment; Hypoglycemia; Optic nerve hypoplasia; Absent speech; Abnormality of the dentition; Carious teeth; Intellectual disability; Ventriculomegaly; Inability to walk; High myopia; Gastrostomy tube feeding in infancy; Cleft palate 2016-08-20 criteria provided, single submitter research

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