ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1W

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1W: Y axis collection method of the submission for Dilated cardiomyopathy 1W:
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
76 46 0 6 8 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 conditions
Dilated cardiomyopathy 1W pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 1 0 0
uncertain significance 1 3 0 7 1
likely benign 0 0 1 0 0
benign 0 0 0 6 0

Condition to condition summary #

Total conditions: 7
Download table as spreadsheet
Condition 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
Dilated Cardiomyopathy, Dominant 0 6 0 6 1 0 0 7
not specified 0 24 0 0 6 0 0 6
not provided 0 22 0 1 3 0 0 4
Primary dilated cardiomyopathy 0 0 0 0 0 0 3 3
Cardiovascular phenotype 0 15 0 0 1 0 1 2
Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 15 0 3 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 18
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HGVS dbSNP
NM_003373.4(VCL):c.1713del (p.Ala573fs) rs779488376
NM_003373.4(VCL):c.2746-2159_2746-2157del rs397517237
NM_003373.4(VCL):c.2746-2193_2746-2192del rs781036800
NM_014000.2(VCL):c.1237G>A (p.Ala413Thr) rs146278697
NM_014000.2(VCL):c.1407C>T (p.Ala469=) rs2229507
NM_014000.2(VCL):c.1506G>A (p.Arg502=) rs2228373
NM_014000.2(VCL):c.1543+8C>G rs886047218
NM_014000.2(VCL):c.2275C>A (p.Arg759=) rs774477633
NM_014000.2(VCL):c.2746-8C>T rs532645343
NM_014000.2(VCL):c.2801C>T (p.Ala934Val) rs16931179
NM_014000.2(VCL):c.2814C>G (p.Gly938=) rs2131956
NM_014000.2(VCL):c.2923C>T (p.Arg975Trp) rs121917776
NM_014000.2(VCL):c.2924G>A (p.Arg975Gln) rs767325003
NM_014000.2(VCL):c.339G>A (p.Arg113=) rs56314318
NM_014000.2(VCL):c.562C>T (p.Arg188Ter) rs397517244
NM_014000.2(VCL):c.768T>C (p.Asp256=) rs56413529
NM_014000.2(VCL):c.780C>T (p.Ser260=) rs774377548
NM_014000.2(VCL):c.829C>A (p.Leu277Met) rs71579353

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