ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.4599A>C (p.Thr1533=)

gnomAD frequency: 0.00070  dbSNP: rs142246629
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
GeneDx RCV001718953 SCV000722567 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Invitae RCV001718953 SCV002489067 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279415 SCV002565345 likely benign Ehlers-Danlos syndrome 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341579 SCV002639040 benign Cardiovascular phenotype 2019-02-25 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.
CeGaT Center for Human Genetics Tuebingen RCV001718953 SCV004138068 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ZNF469: BP4, BP7

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.