Total submissions: 2
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 |