ClinVar Miner

Submissions for variant t(X;19)(p21.2;q13.41)dn

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Division, Universidade Federal de Sao Paulo RCV000727544 SCV000854423 pathogenic Intellectual disability, X-linked 21 2015-03-01 flagged submission research This patient has a translocation in which the X-chromosome breakpoint disrupts the IL1RALP1 gene. Her phenotype includes intellectual disability that overlaps partially with the patients described in Youngs, et al. 2012 (PMID: 21933724).
Genetics Division, Universidade Federal de Sao Paulo RCV003334392 SCV000854424 uncertain significance not specified 2015-03-01 no assertion criteria provided research This patient has a translocation in which the chromosome 19 breakpoint disrupts the ZNF611 gene. Her phenotype includes intellectual disability, however this gene is not related to this phenotype.

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