ClinVar Miner

Variants from Dobyns Lab,Seattle Children's Research Institute with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Dobyns Lab,Seattle Children's Research Institute: Collection method of the submission from Dobyns Lab,Seattle Children's Research Institute:
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
37 15 2 4 0 0 3 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
Dobyns Lab,Seattle Children's Research Institute pathogenic likely pathogenic uncertain significance likely benign
pathogenic 2 3 1 0
likely pathogenic 1 0 2 1

Submitter to submitter summary #

Total submitters: 9
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 1 0 2 0 0 2 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 0 1 0 0 2 3
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 1 2
GeneDx 0 5 0 2 0 0 0 2
GeneReviews 0 1 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 0 0 0 1
Counsyl 0 1 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000303.2(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_002609.3(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_003165.3(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_003165.3(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_004333.5(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_032682.5(FOXP1):c.44C>T (p.Ala15Val) rs532329866

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