ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)

gnomAD frequency: 0.00085  dbSNP: rs368772806
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000336625 SCV000335726 benign not specified 2015-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000336625 SCV000730376 benign not specified 2017-02-27 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.
Invitae RCV002059129 SCV002409493 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244731 SCV002514244 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000336625 SCV002548194 likely benign not specified 2022-05-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278279 SCV002565445 benign Ehlers-Danlos syndrome 2018-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374460 SCV002686920 benign Cardiovascular phenotype 2019-03-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.