ClinVar Miner

Variants studied for trichohepatoenteric syndrome 1

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 total
20 36 30 6 4 94

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SKIC3 18 29 21 5 4 75
SKIC2 1 5 4 0 0 10
NELFE, SKIC2 0 0 5 1 0 6
LOC126859653, SKIC2 0 2 0 0 0 2
AGK 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 16 0 0 0 18
Baylor Genetics 3 1 7 0 0 11
OMIM 10 0 0 0 0 10
Illumina Laboratory Services, Illumina 0 0 9 1 0 10
Revvity Omics, Revvity 0 3 5 1 0 9
Fulgent Genetics, Fulgent Genetics 1 2 2 3 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 2
Mendelics 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 2
3billion 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
New York Genome Center 0 0 1 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.