ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2182-24C>T

gnomAD frequency: 0.13533  dbSNP: rs2041673
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000114168 SCV000306432 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554366 SCV001775592 benign Joubert syndrome 9 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554367 SCV001775593 benign Meckel syndrome, type 6 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001610390 SCV001841306 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610390 SCV005300759 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114168 SCV000147720 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.