ClinVar Miner

Submissions for variant t(X;18)(p21.1;q21.31)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Division, Universidade Federal de Sao Paulo RCV000727546 SCV000854425 likely pathogenic Periventricular nodular heterotopia 7 2016-05-01 no assertion criteria provided research This patient has a translocation in which the chromosome 4 breakpoint disrupts the PCDH10 gene. Her phenotype includes intellectual disability and congenital malformations.

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