ClinVar Miner

Submissions for variant 46;X;t(X;12)(p11.2;q24.33)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 RCV000258654 SCV000320808 likely pathogenic Epicanthus; Global developmental delay; Seizures; Eczema; Abnormal facial shape; Speech apraxia; Wide mouth; Wide nasal bridge; Long eyelashes; Abnormality of the musculature; Hyperactive patellar reflex; Autoimmune hypoparathyroidism 2016-08-20 criteria provided, single submitter research

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