ClinVar Miner

Submissions for variant 46;XX;t(2;11)(q11.2;p13)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 RCV000258731 SCV000320809 pathogenic Obesity; Motor delay; Self-injurious behavior; Sleep disturbance; Depressivity; Overgrowth; Delayed speech and language development; Macrocephalus; Emotional lability; Agitation; Anxiety; Sleep apnea; Mild global developmental delay 2016-08-20 criteria provided, single submitter research

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