ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=)

gnomAD frequency: 0.00100  dbSNP: rs3852522
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231240 SCV000283428 benign Beckwith-Wiedemann syndrome 2024-01-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000231240 SCV002534293 uncertain significance Beckwith-Wiedemann syndrome 2022-02-07 criteria provided, single submitter curation
Genetic Services Laboratory, University of Chicago RCV003150988 SCV003839333 likely benign not specified 2022-10-01 no assertion criteria provided 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.