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 per condition Variants with at least 2 submissions on the same condition 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 conflict
8 3 0 3 0 0 0 3

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
pathogenic 0 1
likely pathogenic 2 0

Submitter to submitter summary #

Total submitters: 7
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
GeneDx 0 0 0 2 0 0 0 2
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
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353

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