ClinVar Miner

Variants in gene CDKN1C

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
58 12 274 238 26 1 586

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Beckwith-Wiedemann syndrome 46 6 264 211 21 0 546
not provided 4 4 10 39 2 0 59
not specified 0 0 0 9 10 0 16
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 8 1 1 0 0 0 10
Beckwith-Wiedemann syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 1 0 2 0 0 0 3
Inborn genetic diseases 0 1 0 0 0 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 0 0 0 1 0 1
Russell-Silver syndrome 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 4 263 228 22 0 546
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 7 2 7 0 18
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
PreventionGenetics, PreventionGenetics 0 0 0 2 8 0 10
Genetic Services Laboratory, University of Chicago 1 0 0 5 1 0 7
GeneReviews 7 0 0 0 0 0 7
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 1 0 0 0 0 3
Gharavi Laboratory,Columbia University 0 1 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
GeneDx 0 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Ambry Genetics 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 0 0 1
ITMI 1 0 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 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
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
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 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.