ClinVar Miner

Variants studied for TCF12-related craniosynostosis

Included ClinVar conditions (2):
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
21 11 6 2 0 1 40

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
TCF12 21 11 6 2 1 40

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
OMIM 8 0 0 0 0 8
Baylor Genetics 1 1 2 0 0 4
UF de Génétique Moléculaire, Hôpital Lariboisière 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
3billion 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 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.