ClinVar Miner

Submissions for variant NM_181426.2(CCDC39):c.1035-5T>C

gnomAD frequency: 0.00021  dbSNP: rs200089274
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
Eurofins Ntd Llc (ga) RCV000724057 SCV000233190 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246088 SCV000316682 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002515301 SCV000561428 likely benign Primary ciliary dyskinesia 2024-01-12 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.