ClinVar Miner

Submissions for variant 46;XY;t(1;6)(q23;q13)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 RCV000258526 SCV000320784 uncertain significance Cleft of soft palate; Robin sequence; Seizures; Micrognathia; Microcephaly; Gynecomastia; Growth hormone deficiency; Intellectual disability; Acute pancreatitis; Inability to walk; Abnormal subcutaneous fat tissue distribution; Gastrostomy tube feeding in infancy; Movement disorder 2016-08-20 criteria provided, single submitter research

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