ClinVar Miner

Variants from Endocrine oncology group,Uppsala University with conflicting interpretations

Location: Sweden — Primary collection method: case-control
Minimum review status of the submission from Endocrine oncology group,Uppsala University: Collection method of the submission from Endocrine oncology group,Uppsala University:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
0 0 0 1 0 0 0 1

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Endocrine oncology group,Uppsala University pathogenic
likely pathogenic 1

Submitter to submitter summary #

Total submitters: 27
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
OMIM 0 0 0 1 0 0 0 1
Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
PreventionGenetics 0 0 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 0 1
Invitae 0 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
GeneReviews 0 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 1 0 0 0 1
Fulgent Genetics 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 0 1
Pathway Genomics 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 0 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 0 0 0 1
Color 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 0 1
True Health Diagnostics 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1
Download table as spreadsheet
HGVS dbSNP
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993

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.