ClinVar Miner

Submissions for variant NM_001797.4(CDH11):c.945G>A (p.Ser315=)

gnomAD frequency: 0.31019  dbSNP: rs28216
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554473 SCV001775718 benign Elsahy-Waters syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001673208 SCV001889847 benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673208 SCV005249579 benign not provided criteria provided, single submitter not provided

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.