ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)

gnomAD frequency: 0.00366  dbSNP: rs149775942
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227466 SCV000288084 benign Multiple endocrine neoplasia type 4 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000249781 SCV000309963 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000227466 SCV000377019 benign Multiple endocrine neoplasia type 4 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000249781 SCV000593969 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572941 SCV000664962 likely benign Hereditary cancer-predisposing syndrome 2017-01-06 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000227466 SCV000744077 likely benign Multiple endocrine neoplasia type 4 2014-10-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000249781 SCV000859963 benign not specified 2018-03-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000857943 SCV001148645 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CDKN1B: BP4, BP7, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000249781 SCV002047228 benign not specified 2021-06-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000227466 SCV002505981 benign Multiple endocrine neoplasia type 4 2023-11-08 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000249781 SCV002549999 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000227466 SCV002812351 likely benign Multiple endocrine neoplasia type 4 2021-09-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000227466 SCV004017037 benign Multiple endocrine neoplasia type 4 2023-07-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000227466 SCV000733142 likely benign Multiple endocrine neoplasia type 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000227466 SCV000746005 likely benign Multiple endocrine neoplasia type 4 2016-07-13 no assertion criteria provided 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.