ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)

gnomAD frequency: 0.00001  dbSNP: rs560251790
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
Fulgent Genetics, Fulgent Genetics RCV002487623 SCV002785911 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-29 criteria provided, single submitter clinical testing
Invitae RCV002535761 SCV003452043 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787908 SCV000926926 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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.