ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11])

dbSNP: rs772704243
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000172988 SCV000554632 likely benign Beckwith-Wiedemann syndrome 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390892 SCV004133922 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CDKN1C: BS1
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie RCV000172988 SCV000223738 pathogenic Beckwith-Wiedemann syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004748620 SCV005365613 likely benign CDKN1C-related disorder 2024-05-21 no assertion criteria provided 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.