ClinVar Miner

Submissions for variant NCBI36/hg18 16q24.3(chr16:87891000-88572000)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000757957 SCV000886405 uncertain significance Intellectual disability, mild 2019-02-19 criteria provided, single submitter clinical testing This is a very rare, de novo CNV. The proximal break point involves ANKRD11, but the phenotype of the patient is not strongly suggestive for KBG syndrome. Furthermore, this patient carries a second de novo CNV (dup1q21.1), which is known to cause intellectual disability with variable clinical expressivity and incomplete penetrance, and may explain (at least in part) the phenotype of this patient.

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