ClinVar Miner

Variants from Neurogenetics of motion laboratory,Montreal Neurological Institute with conflicting interpretations

Location: Canada — Primary collection method: case-control
Minimum review status of the submission from Neurogenetics of motion laboratory,Montreal Neurological Institute: Collection method of the submission from Neurogenetics of motion laboratory,Montreal Neurological 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
3 1 0 3 0 0 2 4

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
Neurogenetics of motion laboratory,Montreal Neurological Institute likely pathogenic uncertain significance
pathogenic 3 2

Submitter to submitter summary #

Total submitters: 9
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
GeneDx 0 3 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 1 1
Fulgent Genetics 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.3(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.3(SPG7):c.233T>A (p.Leu78Ter) rs121918358

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