ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])

dbSNP: rs759134767
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 RCV001081475 SCV000283423 benign Beckwith-Wiedemann syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501668 SCV000593971 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727116 SCV000705852 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001081475 SCV002534291 uncertain significance Beckwith-Wiedemann syndrome 2021-05-25 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003919914 SCV004731554 likely benign CDKN1C-related condition 2022-06-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.