Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003483402 | SCV004230317 | pathogenic | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | The copy number loss of Xp22.33 involves several protein-coding genes. Haploinsufficiency of SHOX and of its downstream enhancer is associated with the spectrum of SHOX deficiency disorders (OMIM 127300, 300582, Alexandrou 2016, Binder 2004, Chen 2009, Van Duyvenvoorde 2014, GeneReviews). There are no similar copy number losses of this region in the general populations of the Database of Genomic Variants. Thus, based on current medical literature, this copy number variant (CNV) is classified as pathogenic with variable expressivity. References: Alexandrou et al., J Genet. 2016 Dec;95(4):839-845. PMID: 27994182 Binder et al., J Clin Endocrinol Metab. 2004 Sep;89(9):4403-8. PMID: 15356038 Binder and Rappold, GeneReviews: [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2005 Dec 12 [updated 2018 Jun 28]. PMID: 20301394 Chen et al., J Med Genet. 2009 Dec;46(12):834-9. PMID: 19578035 Van Duyvenvoorde et al., Eur J Hum Genet. 2014 May;22(5):602-9. PMID: 24065112 |