ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=)

gnomAD frequency: 0.00002  dbSNP: rs754272410
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
Eurofins Ntd Llc (ga) RCV000387282 SCV000336302 uncertain significance not provided 2015-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765613 SCV004585022 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-17 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.