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
115 90 1 57 39 0 2 88

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 4 0 1 0 0
uncertain significance 0 2 1 13 0
likely benign 0 0 26 0 19
benign 0 0 8 29 0

Condition to condition summary #

Total conditions: 14
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 51 0 25 22 0 1 47
Arrhythmogenic right ventricular cardiomyopathy 0 11 0 24 14 0 1 37
not provided 0 57 0 12 12 0 2 26
Cardiomyopathy 0 48 1 15 8 0 0 24
Cardiovascular phenotype 0 45 0 10 6 0 1 17
Arrhythmogenic right ventricular cardiomyopathy, type 9 243 35 0 9 5 0 1 15
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 2 0 1 1 0 0 2
Primary familial hypertrophic cardiomyopathy 0 1 0 1 1 0 0 2
Becker muscular dystrophy 0 0 0 0 1 0 0 1
Brugada syndrome 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 1 0 0 1 0 0 1
Dilated cardiomyopathy 3B 0 0 0 0 1 0 0 1
Duchenne muscular dystrophy 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_001005242.2(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001256850.1(TTN):c.54190C>T (p.Arg18064Cys) rs72646839
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
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.1114G>C (p.Ala372Pro) rs200586695
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.1211dupT (p.Val406Serfs) rs397516989
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.1252delG (p.Ala418Profs) rs1555145509
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1379-1G>A rs139159464
NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1421C>T (p.Ala474Val) rs373399921
NM_004572.3(PKP2):c.1433C>T (p.Ala478Val) rs144620127
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.1550A>G (p.Asn517Ser) rs144536197
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.1636G>A (p.Ala546Thr) rs368740836
NM_004572.3(PKP2):c.1641T>C (p.Asn547=) rs143782040
NM_004572.3(PKP2):c.1643delG (p.Gly548Valfs) rs794729137
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1688+1G>A rs397517003
NM_004572.3(PKP2):c.1689-2A>G rs1555143143
NM_004572.3(PKP2):c.1689-8dupT rs200009796
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1821dupT (p.Val608Cysfs) rs397517010
NM_004572.3(PKP2):c.1952_1955dupGAAG (p.Ser652Argfs) rs397517013
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
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.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2169A>G (p.Thr723=) rs377504106
NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter) rs121434421
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2300-11_2300-10insT rs746936605
NM_004572.3(PKP2):c.2300-11delT rs746936605
NM_004572.3(PKP2):c.2300-21_2300-20delGT rs200266270
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2349G>A (p.Pro783=) rs753226330
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.2485G>A (p.Asp829Asn) rs151264959
NM_004572.3(PKP2):c.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.2509delA (p.Ser837Valfs) rs727504432
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.2554delG (p.Glu852Asnfs) rs1353074803
NM_004572.3(PKP2):c.2578-10dupT rs397517024
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.387G>A (p.Gln129=) rs768974835
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
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.611G>A (p.Arg204His) rs755215178
NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.837_838delCG (p.Val280Hisfs) rs772220644
NM_004572.3(PKP2):c.900G>A (p.Thr300=) rs140235564
NM_004572.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004572.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_133378.4(TTN):c.95173A>G (p.Lys31725Glu) rs72629783

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