ClinVar Miner

Variants from Snyder Lab, Genetics Department,Stanford University with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Snyder Lab, Genetics Department,Stanford University: Collection method of the submission from Snyder Lab, Genetics Department,Stanford 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
1 5 0 5 0 1 2 8

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
Snyder Lab, Genetics Department,Stanford University pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 2 0 0
likely pathogenic 3 0 2 0
risk factor 1 1 1 1

Submitter to submitter summary #

Total submitters: 22
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
Ambry Genetics 0 2 0 3 0 1 0 4
GeneDx 0 3 0 3 0 0 0 3
Invitae 0 3 0 2 0 0 1 3
Center for Human Genetics, Inc 0 0 0 1 0 1 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 1 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 1 0 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 1 0 1 0 2
Fulgent Genetics 0 0 0 2 0 0 0 2
Color 0 2 0 1 0 1 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 1 0 1 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 0 1 0 1
PreventionGenetics 0 1 0 0 0 1 0 1
Counsyl 0 3 0 0 0 1 0 1
Mendelics 0 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 0 0 1 0 1
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000352.4(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) rs200495564
NM_001134363.2(RBM20):c.1898C>T (p.Pro633Leu)
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.71dup (p.Ala25Glyfs) rs1131691057
NM_007194.4(CHEK2):c.1368dup (p.Glu457Argfs) rs730881700
NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353

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.