ClinVar Miner

Submissions for variant 46;XX;ins(2;9)(q24.3;p22.1p24.3)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 RCV000258724 SCV000320992 pathogenic Brachydactyly type B1; Developmental cataract; Teeth, fused; Seizure; Posteriorly rotated ears; Delayed speech and language development; Downslanted palpebral fissures; Open mouth; Strabismus; Sparse and thin eyebrow; Toe clinodactyly; Drooling; Abnormality of temperature regulation; Prominent metopic ridge; Impaired pain sensation; Generalized neonatal hypotonia; Inflammatory abnormality of the skin; Midface retrusion; Chronic constipation; Patent ductus arteriosus 2016-08-20 criteria provided, single submitter research

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