ClinVar Miner

Variants in gene AXIN1

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
5 0 78 30 20 126

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign total
not specified 0 75 5 3 83
not provided 0 2 14 14 24
AXIN1-related disorder 0 0 10 11 21
Craniometadiaphyseal osteosclerosis with hip dysplasia 3 0 0 0 3
Hepatocellular carcinoma 1 2 0 0 3
Caudal duplication; Hepatocellular carcinoma 0 0 2 0 2
Caudal duplication 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 75 4 0 79
PreventionGenetics, part of Exact Sciences 0 0 10 11 21
Labcorp Genetics (formerly Invitae), Labcorp 0 0 3 12 15
CeGaT Center for Human Genetics Tuebingen 0 0 10 2 12
Breakthrough Genomics, Breakthrough Genomics 0 0 2 9 11
OMIM 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 2 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 1 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.