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: 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
301 24 0 9 20 0 0 27

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 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 16 6
likely benign 0 0 16 0 6
benign 0 0 6 6 0

Condition to condition summary #

Total conditions: 1
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Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Arrhythmogenic right ventricular cardiomyopathy, type 11 301 24 0 9 20 0 0 27

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1521-7C>T rs374810953
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481
NM_024422.6(DSC2):c.631-2A>G rs397514042
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.943-1G>A rs796756333

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