ClinVar Miner

Submissions for variant 46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)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 RCV000258548 SCV000320852 likely pathogenic Epicanthus; Seizures; Tapered finger; Spasticity; Microtia; Abnormal facial shape; Absent speech; Downslanted palpebral fissures; Preauricular pit; Specific learning disability; Hypospadias, penile; Microcephaly; Microretrognathia; Atresia of the external auditory canal; Abnormality of vision; Inability to walk; Posteriorly placed tongue; Intellectual disability, severe 2016-08-20 criteria provided, single submitter research

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