ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)

gnomAD frequency: 0.00143  dbSNP: rs540923047
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233580 SCV000283426 benign Beckwith-Wiedemann syndrome 2024-01-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593067 SCV000705639 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001731457 SCV001982227 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000233580 SCV002534292 likely benign Beckwith-Wiedemann syndrome 2021-08-04 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503886 SCV002797807 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-07-30 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.