ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr) (rs397517356)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039282 SCV000062966 uncertain significance not specified 2012-04-10 criteria provided, single submitter clinical testing The Ala2753Thr variant in CDH23 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, the clinical si gnificance of this variant cannot be determined with certainty.
Natera, Inc. RCV001276917 SCV001463574 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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.