ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.54C>T (p.Ala18=)

gnomAD frequency: 0.00009  dbSNP: rs151027466
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000474709 SCV000554682 likely benign Multiple endocrine neoplasia type 4 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573628 SCV000673203 likely benign Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237876 SCV002009971 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003237876 SCV004220767 benign not provided 2023-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942507 SCV004758619 likely benign CDKN1B-related disorder 2022-09-23 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.