ClinVar Miner

Variants with conflicting interpretations studied for Arrhythmogenic right ventricular cardiomyopathy, type 11

Coded as:
Minimum review status of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 11: Y axis collection method of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 11:
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
80 49 0 27 28 0 2 47

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 11 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 0 0 6 1
likely benign 0 1 21 0 12
benign 0 1 7 16 0

Condition to condition summary #

Total conditions: 9
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 34 0 15 16 0 1 30
Arrhythmogenic right ventricular cardiomyopathy 0 6 0 8 10 0 1 19
Cardiomyopathy 0 27 0 9 5 0 0 13
Arrhythmogenic right ventricular cardiomyopathy, type 11 150 16 0 7 3 0 0 10
Cardiovascular phenotype 0 32 0 3 7 0 0 10
not provided 0 25 0 5 5 0 0 9
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 0 0 1 0 0 1
Cardiomyopathy, arrhythmogenic right ventricular dysplasia 0 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 47
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HGVS dbSNP
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004949.4(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_004949.4(DSC2):c.2125+1delG rs794728072
NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_004949.4(DSC2):c.942+13_942+15dupTTA rs5823783
NM_004949.4(DSC2):c.943-1G>A rs796756333
NM_024422.3(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.3(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.3(DSC2):c.2368_2370delGGA (p.Gly790del) rs377272752
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.4(DSC2):c.1070G>A (p.Arg357His) rs201201194
NM_024422.4(DSC2):c.1269G>A (p.Leu423=) rs376049846
NM_024422.4(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.4(DSC2):c.135C>T (p.Ala45=) rs749323567
NM_024422.4(DSC2):c.1521-7C>T rs374810953
NM_024422.4(DSC2):c.1552G>C (p.Val518Leu) rs397517394
NM_024422.4(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.4(DSC2):c.1638T>C (p.Asn546=) rs145987522
NM_024422.4(DSC2):c.1680G>A (p.Thr560=) rs567202599
NM_024422.4(DSC2):c.1719C>T (p.Asn573=) rs140167653
NM_024422.4(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.4(DSC2):c.174T>C (p.Phe58=) rs150792047
NM_024422.4(DSC2):c.1775C>T (p.Ala592Val) rs140232809
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.4(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.4(DSC2):c.1789G>T (p.Val597Phe) rs143040393
NM_024422.4(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.4(DSC2):c.2250+3A>G rs1555637433
NM_024422.4(DSC2):c.2379C>A (p.Thr793=) rs773813155
NM_024422.4(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.4(DSC2):c.2430G>A (p.Arg810=) rs755276378
NM_024422.4(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.4(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.4(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.4(DSC2):c.2636A>G (p.Asp879Gly) rs143342988
NM_024422.4(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.4(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.4(DSC2):c.32A>G (p.Asn11Ser) rs868333
NM_024422.4(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.4(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.4(DSC2):c.631-2A>G rs397514042
NM_024422.4(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024422.4(DSC2):c.70-11delT rs572309510
NM_024422.4(DSC2):c.777C>T (p.Gly259=) rs565694087
NM_024422.4(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_024422.4(DSC2):c.907G>A (p.Val303Met) rs145560678

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