ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=)

gnomAD frequency: 0.00022  dbSNP: rs931922290
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000628588 SCV000749490 likely benign Beckwith-Wiedemann syndrome 2024-01-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000628588 SCV002534266 likely benign Beckwith-Wiedemann syndrome 2021-04-23 criteria provided, single submitter curation

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.