ClinVar Miner

Variants with conflicting interpretations studied for Arrhythmogenic right ventricular cardiomyopathy, type 5

Coded as:
Minimum review status of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 5: Y axis collection method of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 5:
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
49 40 1 14 19 0 2 31

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
Arrhythmogenic right ventricular cardiomyopathy, type 5 pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 2 1 7 1
likely benign 0 7 0 2
benign 0 6 12 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
not specified 0 23 0 7 9 0 0 16
Arrhythmogenic right ventricular cardiomyopathy 0 3 1 5 4 0 0 10
Cardiovascular phenotype 0 21 0 3 5 0 1 9
not provided 0 19 0 2 4 0 1 7
Cardiomyopathy 0 19 0 4 1 0 0 5
Arrhythmogenic right ventricular cardiomyopathy, type 5 117 1 0 0 1 0 1 2
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 31
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HGVS dbSNP
NM_024334.2(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224
NM_024334.2(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.279C>T (p.Gly93=) rs149883381
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.333G>A (p.Pro111=) rs774276092
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.45C>A (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.564C>T (p.Gly188=) rs143124744
NM_024334.2(TMEM43):c.579G>A (p.Ser193=) rs369319499
NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) rs533275736
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.750C>T (p.Gly250=) rs374222050
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.797G>A (p.Arg266Gln) rs193922707
NM_024334.2(TMEM43):c.798G>A (p.Arg266=) rs139078900
NM_024334.2(TMEM43):c.802C>T (p.Arg268Trp) rs201138253
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024334.2(TMEM43):c.98C>T (p.Ser33Leu) rs539753097

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