ClinVar Miner

Submissions for variant GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000511005 SCV000585644 likely pathogenic See cases 2015-06-22 no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000683814 SCV000811323 pathogenic not provided 2021-04-01 no assertion criteria provided clinical testing This copy number gain involves several genes including TBX6 (OMIM 602427) and is associated with the proximal (BP4-BP5) 16p11.2 microduplication syndrome (OMIM 614671). Typical features include autism spectrum disorder, intellectual disability, and neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), and schizophrenia. Microcephaly and low body weight are additional common features (Redaelli et al., Int J Mol Sci. 2019 Mar 4;20(5). Pii: E1095. PMID: 30836598). Inheritance from a normal or mildly affected parent has been reported, suggesting incomplete penetrance and variable expressivity. See GeneReviews for additional information and references: www.ncbi.nlm.nih.gov/books/NBK11167/, Go to: Genetically Related (Allelic) Disorders.

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