ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1AA

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1AA: Y axis collection method of the submission for Dilated cardiomyopathy 1AA:
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
2 6 0 16 10 0 1 22

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 1AA likely pathogenic uncertain significance likely benign benign
pathogenic 1 1 1 0
uncertain significance 0 0 1 0
likely benign 0 9 0 12
benign 0 0 5 0

Condition to condition summary #

Total conditions: 10
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 8 0 10 2 0 1 13
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 6 0 9 1 0 1 11
Dilated Cardiomyopathy, Dominant 0 1 0 3 7 0 0 10
Hypertrophic cardiomyopathy 0 1 0 3 7 0 0 10
Cardiomyopathy 0 1 0 5 2 0 1 8
Cardiovascular phenotype 0 9 0 2 0 0 1 3
Dilated cardiomyopathy 1AA 27 1 0 2 0 0 0 2
not provided 0 3 0 2 0 0 0 2
Primary dilated cardiomyopathy 0 0 0 0 0 0 1 1
Primary familial hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001103.3(ACTN2):c.-22C>T rs138279482
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1657-16T>C rs148194175
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) rs144680712
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) rs12063382
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001103.3(ACTN2):c.616-3C>T rs111464645
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001103.3(ACTN2):c.877-8C>G rs2288601

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