ClinVar Miner

Submissions for variant GRCh37/hg19 17q12(chr17:34822465-36307773)x1

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000683928 SCV000811437 pathogenic not provided 2024-05-07 criteria provided, single submitter clinical testing This copy number loss of 17q12 encompasses gene HNF1B (OMIM 189907; ISCA-3955; Nittel 2023) and is associated with chromosome 17q12 deletion syndrome (OMIM 614527; ISCA-37432; Mitchel 2021, Rasmussen 2016), both of which are determined to be haploinsufficient. Thus, this copy number variant (CNV) is classified as pathogenic. References: Mitchel et al., GeneReviews. [2021 Oct 15]. PMID: 27929632; Nittel et al., Front Pediatr. 2023 Mar 9:11:1149875. PMID: 36969268; Rasmussen et al., Am J Med Genet A. 2016 Nov;170(11):2934-2942. PMID: 27409573
ISCA site 1 RCV000512367 SCV000585327 pathogenic See cases 2013-11-12 no assertion criteria provided clinical testing

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