ClinVar Miner

Variants in gene CDKN1C

Minimum submission review status: Collection method:
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Gene type:
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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
109 25 615 540 29 9 1241

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Beckwith-Wiedemann syndrome 98 14 540 504 26 0 1165
not provided 5 7 52 52 13 0 117
Beckwith-Wiedemann syndrome; IMAGe syndrome 1 1 81 17 3 1 104
CDKN1C-related disorder 2 1 15 30 5 0 53
Inborn genetic diseases 1 1 35 12 1 0 50
not specified 0 0 3 15 9 0 24
IMAGe syndrome 7 1 5 0 1 8 18
Hereditary cancer 0 0 0 1 0 0 1
IMAGe syndrome; Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1
Silver-Russell syndrome 1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 82 5 522 498 25 0 1132
Fulgent Genetics, Fulgent Genetics 0 0 80 17 3 0 100
PreventionGenetics, part of Exact Sciences 1 1 15 31 10 0 58
CeGaT Center for Human Genetics Tuebingen 0 0 4 41 8 0 53
Ambry Genetics 1 1 35 12 1 0 50
Baylor Genetics 0 2 47 0 0 0 49
GeneDx 0 3 24 8 4 0 39
Sema4, Sema4 0 0 12 15 10 0 37
Eurofins Ntd Llc (ga) 2 0 7 2 7 0 18
Genetic Services Laboratory, University of Chicago 1 0 1 11 4 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 3 8 2 0 13
OMIM 11 0 0 0 0 0 11
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 10 0 0 0 0 1 11
Revvity Omics, Revvity 0 1 9 0 0 0 10
GeneReviews 0 0 0 0 0 8 8
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Gharavi Laboratory, Columbia University 0 2 2 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Mendelics 0 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
ISCA site 8 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 1
Department of Pediatrics, Nagoya University Graduate School of Medicine 1 0 0 0 0 0 1

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