ClinVar Miner

Variants in gene CDKN1B

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
11 4 132 56 11 1 202

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple endocrine neoplasia, type 4 11 0 102 39 6 0 156
Multiple endocrine neoplasia 0 0 16 18 6 0 40
Hereditary cancer-predisposing syndrome 0 0 20 12 3 0 35
not provided 0 1 5 1 1 1 9
not specified 0 0 0 2 3 0 4
Neuroendocrine neoplasm 0 3 0 0 0 0 3
Primary hyperparathyroidism 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 0 102 38 6 0 152
Illumina Clinical Services Laboratory,Illumina 0 0 16 18 6 0 40
Ambry Genetics 0 0 20 12 3 0 35
OMIM 5 0 0 0 0 0 5
PreventionGenetics 0 0 0 0 3 0 3
James Howe Lab,University of Iowa Hospital and Clinics 0 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Endocrine Unit 2,University Hospital of Pisa 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
GeneDx 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1

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.