ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3153T>C (p.Ile1051=) (rs9924504)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000260279 SCV000733529 benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173219 SCV000224314 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000173219 SCV000524271 benign not specified 2016-09-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000260279 SCV000745867 benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-01-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260279 SCV000399316 benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.