ClinVar Miner

Submissions for variant 46;XY;t(2;14)(p23;q13)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 RCV000258705 SCV000320800 uncertain significance Motor delay; Seizure; Nystagmus; Abnormal facial shape; Absent speech; Delayed speech and language development; Myopia; Penile hypospadias; Recurrent otitis media; Retinal coloboma; Abnormal periventricular white matter morphology; Mild conductive hearing impairment; Severe global developmental delay 2016-08-20 criteria provided, single submitter research

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