ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu) (rs1560192615)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000785073 SCV000923628 uncertain significance not provided 2019-01-01 criteria provided, single submitter research
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000791022 SCV000930288 uncertain significance COACH syndrome 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000791023 SCV000930289 uncertain significance Joubert syndrome 9 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000791024 SCV000930290 uncertain significance Meckel syndrome type 6 2019-04-27 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.