ClinVar Miner

Submissions for variant 46;XX;t(2;10)(q22;22.3)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 RCV000258771 SCV000320983 pathogenic Obesity; Global developmental delay; Seizures; Short stature; Genu valgum; Deeply set eye; Dysarthria; Delayed speech and language development; Specific learning disability; Broad face; Prominent nasal bridge; Strabismus; Diastema; Swan neck-like deformities of the fingers; Metatarsus valgus; Overbite 2016-08-20 criteria provided, single submitter research

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