ClinVar Miner

Submissions for variant t(9;14)(q22.31;q12)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Cellular and Molecular Medicine,Copenhagen University RCV000605270 SCV000576475 pathogenic Rett syndrome, congenital variant 2014-01-01 no assertion criteria provided research The total number of MPS read pairs passing the alignment score were 57,072,837. The translocation breakpoints were refined by a cluster of 24 BP-spanning reads to 9q22.31:94,269,066-94,269,642 and 14q12:29,738,715-29,739,465. The breakpoint on chromosome 9 does not truncate any gene or predicted regulatory domain. The breakpoint on the chromosome 14 truncates a highly conserved regulatory landscape 502kb downstream of FOXG1.

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