ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2840T>A (p.Val947Glu) (rs397517318)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039136 SCV000062818 uncertain significance not specified 2012-01-10 criteria provided, single submitter clinical testing The Val947Glu variant in CDH23 has not been reported in the literature nor ident ified by our laboratory. Computational analyses (biochemical amino acid properti es, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or a gainst pathogenicity. In summary, the clinical significance of this variant cann ot be determined with certainty at this time.

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.