ClinVar Miner

Variants with conflicting interpretations studied for Arrhythmogenic right ventricular cardiomyopathy, type 9

Coded as:
Minimum review status of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 9: Y axis collection method of the submission for Arrhythmogenic right ventricular cardiomyopathy, type 9:
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
129 88 1 49 25 0 4 70

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 9 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 14 0 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 0 4 1 14 1
likely benign 0 0 9 0 16
benign 0 0 8 23 0

Condition to condition summary #

Total conditions: 15
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 38 0 22 16 0 1 35
not provided 0 66 0 20 9 0 4 32
Arrhythmogenic right ventricular cardiomyopathy 0 14 0 19 10 0 1 30
Cardiomyopathy 0 33 1 14 6 0 0 19
Arrhythmogenic right ventricular cardiomyopathy, type 9 242 31 0 11 2 0 1 14
Cardiovascular phenotype 0 40 0 8 2 0 1 11
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 2 0 1 1 0 0 2
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 0 2 0 0 0 2
Brugada syndrome; Premature ventricular contraction 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 1 0 1 0 0 0 1
Long QT syndrome 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 4 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 2 0 0 1 0 0 1
Ventricular tachycardia 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1034+10C>T rs759397762
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1230C>T (p.Asp410=) rs148364390
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1415C>T (p.Pro472Leu) rs758950276
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1511-18A>G rs113698150
NM_004572.3(PKP2):c.1511-5T>C rs189036647
NM_004572.3(PKP2):c.1547A>G (p.Lys516Arg) rs749926313
NM_004572.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.1688+1G>A rs397517003
NM_004572.3(PKP2):c.1689-13dup rs200009796
NM_004572.3(PKP2):c.1689-2A>G rs1555143143
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.1843T>A (p.Ser615Thr) rs768286281
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) rs397517013
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.2097A>G (p.Gln699=) rs727505293
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2150C>T (p.Pro717Leu) rs144018320
NM_004572.3(PKP2):c.2169A>G (p.Thr723=) rs377504106
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2300-11del rs746936605
NM_004572.3(PKP2):c.2300-20dup rs746936605
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.2489+5G>A rs1555141020
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.2554del (p.Glu852fs) rs1353074803
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.533dup (p.His179fs) rs769220833
NM_004572.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004572.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_004572.3(PKP2):c.953A>C (p.His318Pro) rs181098323

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