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
71 14 571 260 56 2 882

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple endocrine neoplasia type 4 61 4 458 198 34 0 739
Hereditary cancer-predisposing syndrome 25 2 270 167 27 0 475
not provided 2 2 51 24 12 2 86
CDKN1B-related condition 0 1 9 17 0 0 27
not specified 0 0 6 6 5 0 15
Multiple endocrine neoplasia 0 0 1 4 0 0 5
Ovarian cancer 0 2 0 0 2 0 4
Inborn genetic diseases 0 0 2 1 0 0 3
Neuroendocrine neoplasm 0 3 0 0 0 0 3
Primary hyperparathyroidism 2 0 1 0 0 0 3

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 2 417 195 13 0 685
Ambry Genetics 25 1 262 159 23 0 470
Illumina Laboratory Services, Illumina 0 0 31 10 27 0 68
GeneDx 1 0 36 5 3 0 45
Sema4, Sema4 0 0 16 18 6 0 40
Baylor Genetics 0 1 38 0 0 0 39
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 12 13 10 0 36
PreventionGenetics, part of Exact Sciences 0 1 9 17 3 0 30
CeGaT Center for Human Genetics Tuebingen 1 1 5 9 1 0 17
Fulgent Genetics, Fulgent Genetics 0 0 6 3 1 0 10
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 5 3 2 0 10
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 6 0 6
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 4 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 3 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 4 0 0 0 4
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 2 0 0 2 0 4
Mendelics 0 0 2 0 1 0 3
James Howe Lab, University of Iowa Hospital and Clinics 0 3 0 0 0 0 3
Endocrine Unit 2, University Hospital of Pisa 2 0 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1

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