ClinVar Miner

Variants studied for cleidocranial dysplasia

Included ClinVar conditions (1):
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 total
23 7 64 7 38 138

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RUNX2 21 5 59 3 34 121
LOC109611589, RUNX2 1 2 3 3 1 10
RUNX2, SUPT3H 1 0 2 1 1 5
LOC109611593, RUNX2, SUPT3H 0 0 0 0 2 2

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 56 6 38 100
OMIM 10 0 0 0 0 10
Department of Medical Genetics,Faculty of Medicine, Istanbul University 5 4 1 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 4
GeneReviews 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Mendelics 1 0 0 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Department of Clinical Biochemistry,University General Hospital Attikon, Medical School, National & Kapodistrian University of Athens 1 0 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.