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
73 46 0 29 26 0 5 51

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 4 0
likely benign 0 0 11 0 6
benign 0 0 11 23 0

Condition to condition summary #

Total conditions: 11
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
not specified 0 37 0 20 8 0 0 27
Dilated Cardiomyopathy, Dominant 0 6 0 6 14 0 0 20
Cardiovascular phenotype 0 23 0 8 3 0 1 12
not provided 0 17 0 3 9 0 0 12
Cardiomyopathy 0 13 0 2 3 0 0 5
Primary dilated cardiomyopathy 0 0 0 0 0 0 3 3
Dilated cardiomyopathy 0 0 0 1 0 0 0 1
Dilated cardiomyopathy with left ventricular noncompaction 0 0 0 0 1 0 0 1
Familial dilated cardiomyopathy 0 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 15 0 3 0 0 0 0 1 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_014000.2(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.2(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014000.2(VCL):c.1237G>A (p.Ala413Thr) rs146278697
NM_014000.2(VCL):c.1290C>T (p.Asp430=) rs576271894
NM_014000.2(VCL):c.1348A>C (p.Arg450=) rs142128712
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.1542C>T (p.Val514=) rs7904077
NM_014000.2(VCL):c.1543+8C>G rs886047218
NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.2(VCL):c.1572C>T (p.Ala524=) rs138566234
NM_014000.2(VCL):c.1575A>C (p.Glu525Asp) rs548487697
NM_014000.2(VCL):c.1607C>A (p.Pro536His) rs200624351
NM_014000.2(VCL):c.1626C>T (p.Leu542=) rs150402791
NM_014000.2(VCL):c.1671C>T (p.Asp557=) rs137877092
NM_014000.2(VCL):c.1713delA (p.Ala573Hisfs) rs779488376
NM_014000.2(VCL):c.1716T>G (p.Leu572=) rs189781480
NM_014000.2(VCL):c.1788A>C (p.Ser596=) rs199582103
NM_014000.2(VCL):c.1842G>A (p.Thr614=) rs144117013
NM_014000.2(VCL):c.1907A>G (p.His636Arg) rs71579374
NM_014000.2(VCL):c.2025G>A (p.Val675=) rs140766884
NM_014000.2(VCL):c.2427C>T (p.Ser809=) rs183739128
NM_014000.2(VCL):c.2472C>G (p.Ile824Met) rs140381835
NM_014000.2(VCL):c.2521G>C (p.Asp841His) rs150385900
NM_014000.2(VCL):c.2746-8C>T rs532645343
NM_014000.2(VCL):c.2796T>C (p.Asp932=) rs140308982
NM_014000.2(VCL):c.2799G>A (p.Ala933=) rs199507346
NM_014000.2(VCL):c.2801C>T (p.Ala934Val) rs16931179
NM_014000.2(VCL):c.2802C>T (p.Ala934=) rs372381809
NM_014000.2(VCL):c.2827C>G (p.Pro943Ala) rs71579375
NM_014000.2(VCL):c.2828_2829delCT (p.Pro943Argfs) rs781036800
NM_014000.2(VCL):c.2862_2864delGTT (p.Leu955del) rs397517237
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.3258+10A>T rs71579379
NM_014000.2(VCL):c.3333T>C (p.Ala1111=) rs147415627
NM_014000.2(VCL):c.339G>A (p.Arg113=) rs56314318
NM_014000.2(VCL):c.366G>A (p.Leu122=) rs199562976
NM_014000.2(VCL):c.378C>T (p.Phe126=) rs148966602
NM_014000.2(VCL):c.404T>C (p.Ile135Thr) rs373744314
NM_014000.2(VCL):c.45G>A (p.Pro15=) rs775062250
NM_014000.2(VCL):c.492T>G (p.Leu164=) rs143702799
NM_014000.2(VCL):c.562C>T (p.Arg188Ter) rs397517244
NM_014000.2(VCL):c.590C>T (p.Thr197Ile) rs189242810
NM_014000.2(VCL):c.622+4C>T rs201020802
NM_014000.2(VCL):c.660C>T (p.Asn220=) rs56264452
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.81C>T (p.His27=) rs200733607
NM_014000.2(VCL):c.829C>A (p.Leu277Met) rs71579353
NM_014000.2(VCL):c.945C>A (p.Gly315=) rs61731180

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