ClinVar Miner

Variants in gene CDKN1B

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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
31 6 273 115 26 1 424

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple endocrine neoplasia, type 4 28 0 240 86 26 0 369
Hereditary cancer-predisposing syndrome 3 1 87 45 4 0 140
not provided 0 2 9 23 0 1 35
Multiple endocrine neoplasia 0 0 1 4 0 0 5
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 0 217 97 8 0 346
Ambry Genetics 3 0 87 45 4 0 139
Illumina Clinical Services Laboratory,Illumina 0 0 23 9 21 0 53
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 3 0 0 9
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 0 2 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
James Howe Lab,University of Iowa Hospital and Clinics 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 1 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
Mendelics 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 1 0 1
Academic Department of Medical Genetics, University of Cambridge 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1

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