ClinVar Miner

Submissions for variant 46;XX;t(6;13)(q21;q32)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 RCV000258710 SCV000320817 likely pathogenic Global developmental delay; Autistic behavior; Low-set ears; Anteverted nares; Depressed nasal bridge; Short nose; Macrocephalus; Long philtrum; Prominent forehead; Muscular hypotonia 2016-08-20 criteria provided, single submitter research

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