ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys)

gnomAD frequency: 0.00002  dbSNP: rs374005945
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
Invitae RCV001365369 SCV001561637 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000804528 SCV002779096 uncertain significance Orofaciodigital syndrome type 6; Joubert syndrome 17 2021-12-12 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.