ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr)

gnomAD frequency: 0.00330  dbSNP: rs144986357
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367707 SCV000399375 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697744 SCV000535457 likely benign not provided 2021-09-16 criteria provided, single submitter clinical testing
Invitae RCV001697744 SCV002435193 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356439 SCV002654990 benign Cardiovascular phenotype 2020-03-18 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.