ClinVar Miner

Variants from CHU Sainte-Justine Research Center, University of Montreal with conflicting interpretations

Location: Canada  Primary collection method: research
Minimum review status of the submission from CHU Sainte-Justine Research Center, University of Montreal: Collection method of the submission from CHU Sainte-Justine Research Center, University of Montreal:
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
97 9 0 8 0 0 3 11

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
CHU Sainte-Justine Research Center, University of Montreal pathogenic likely pathogenic uncertain significance
pathogenic 0 2 0
likely pathogenic 6 0 3

Submitter to submitter summary #

Total submitters: 14
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
OMIM 0 3 0 3 0 0 0 3
Baylor Genetics 0 2 0 1 0 0 1 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Invitae 0 1 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 0 0 1 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185 0.00002
NM_022662.4(ANAPC1):c.2705-198C>T rs999743155 0.00002
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_016188.5(ACTL6B):c.695del (p.Pro232fs) rs779550102
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_181486.4(TBX5):c.242+4A>G rs886044059

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