ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.683A>T (p.Asp228Val)

dbSNP: rs1060499788
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
King Laboratory, University of Washington RCV000454219 SCV002059900 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2020-08-01 criteria provided, single submitter research CDH23 c.683A>T, p.D228V alters a residue of CDH23 completely conserved in all sequenced vertebrates. The variant is homozygous in 2 Palestinian children with profound pre-lingual hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and from gnomAD v2.1.1.
Hereditary Research Laboratory, Bethlehem University RCV000454219 SCV000538083 pathogenic Autosomal recessive nonsyndromic hearing loss 12 2016-06-04 no assertion criteria provided research profound

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.