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 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
51 7 0 13 1 0 5 18

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 uncertain significance
pathogenic 0 1
likely pathogenic 13 4
likely benign 0 1

Submitter to submitter summary #

Total submitters: 11
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
OMIM 0 3 0 10 0 0 0 10
GeneDx 0 3 0 1 1 0 1 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 3 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 0 0 0 0 0 2 2
Ambry Genetics 0 0 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 2 0 1 0 0 0 1
Invitae 0 2 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
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
SIB Swiss Institute of Bioinformatics 0 5 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_001005271.2(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005273.2(CHD3):c.2745G>T (p.Leu915Phe)
NM_001005273.2(CHD3):c.3472T>C (p.Trp1158Arg)
NM_001005273.2(CHD3):c.3505C>T (p.Arg1169Trp)
NM_001005273.2(CHD3):c.3515G>A (p.Arg1172Gln)
NM_001244008.1(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.1(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.1(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.1(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.1(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001244008.1(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_005068.2(SIM1):c.2119G>C (p.Asp707His) rs74726213
NM_052867.3(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_212482.2(FN1):c.2425_2427delACA (p.Thr809del) rs1553636502
NM_212482.2(FN1):c.773G>A (p.Cys258Tyr) rs1553658948
NM_212482.3(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.3(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.3(FN1):c.718T>G (p.Tyr240Asp) rs1553659131

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