ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)

dbSNP: rs1554819761
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
Counsyl RCV000669808 SCV000794595 uncertain significance Usher syndrome type 1F 2017-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493104 SCV002779611 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-04-25 criteria provided, single submitter 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.