ClinVar Miner

Variants with conflicting interpretations studied for Arrhythmogenic right ventricular cardiomyopathy, type 10

Coded as:
Minimum review status of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 10: Y axis collection method of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 10:
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
82 53 0 10 8 1 14 29

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 10 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 10 4 1 0 1
likely pathogenic 3 0 0 0 0 0
uncertain significance 2 8 0 6 1 0
likely benign 1 0 2 0 0 1

Condition to condition summary #

Total conditions: 12
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
Arrhythmogenic right ventricular cardiomyopathy 0 14 0 4 1 0 5 9
not provided 0 39 0 3 2 0 6 9
not specified 0 24 0 0 7 0 2 8
Cardiomyopathy 0 14 0 1 3 0 3 7
Cardiovascular phenotype 0 13 0 2 3 0 1 6
Arrhythmogenic right ventricular cardiomyopathy, type 10 156 4 0 3 0 0 1 4
Dilated cardiomyopathy 1BB 0 1 0 1 0 1 0 2
Primary dilated cardiomyopathy 0 0 0 1 0 0 1 2
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 0 0 1 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Long QT syndrome 0 0 0 0 0 0 1 1
Primary familial hypertrophic cardiomyopathy 0 0 0 0 1 0 1 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_001943.4(DSG2):c.829_840delCTTGAAGGGATG (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2004G>A (p.Val668=) rs773645222
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.3055_3056AG[3] (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile) rs201966605
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291
NM_001943.5(DSG2):c.782G>A (p.Arg261His) rs727502984
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012

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