ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) (rs16903518)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000145380 SCV000516890 benign not specified 2016-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000145380 SCV000192460 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327038 SCV000457359 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000530216 SCV000647825 benign Orofaciodigital syndrome 6; Joubert syndrome 17 2017-12-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000145380 SCV000314210 benign not specified 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.