ClinVar Miner

Variants with conflicting interpretations studied for Romano-Ward syndrome

Coded as:
Minimum review status of the submission for Romano-Ward syndrome: Y axis collection method of the submission for Romano-Ward syndrome:
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
0 475 1 81 75 2 6 153

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
Romano-Ward syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 0 1 0 0 0 0 0
likely pathogenic 9 0 2 1 0 0 0
uncertain significance 0 1 1 53 34 0 0
likely benign 3 2 6 0 71 2 1

Condition to condition summary #

Total conditions: 28
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 18 0 62 33 0 0 93
Cardiovascular phenotype 0 33 0 52 37 0 1 90
Long QT syndrome 0 457 0 44 31 1 3 76
not provided 0 33 0 27 28 1 0 54
Arrhythmia 0 9 0 22 13 0 0 35
Brugada syndrome 0 82 0 7 17 0 0 24
Long QT syndrome 11 0 2 0 11 4 0 0 15
Cardiac arrhythmia 0 0 1 4 0 0 0 5
Limb-girdle muscular dystrophy, type 1C; Distal myopathy, Tateyama type 0 0 0 4 0 0 0 4
Cardiomyopathy 0 0 0 1 2 0 0 3
Long QT syndrome 1 0 1 0 2 0 0 1 3
Long QT syndrome 5 0 0 0 1 0 1 0 2
Andersen Tawil syndrome 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death 0 0 0 0 0 0 1 1
Brugada syndrome 1 0 0 0 0 1 0 0 1
Jervell and Lange-Nielsen syndrome 2 0 0 0 1 0 0 0 1
Long QT syndrome 10 0 0 0 1 0 0 0 1
Long QT syndrome 13 0 0 0 0 0 0 1 1
Long QT syndrome 2 0 0 0 1 0 0 0 1
Long QT syndrome 2/5 0 0 0 0 0 0 1 1
Long QT syndrome 3 0 0 0 1 0 0 0 1
Long QT syndrome 5, acquired, susceptibility to 0 0 0 0 0 1 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 0 0 1 1
Short QT syndrome 1; Long QT syndrome 2 0 0 0 1 0 0 0 1
Ventricular fibrillation 0 0 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 0 0 0 0 0 1 1
short QT syndrome 0 85 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 153
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1394-14C>T rs28730758
NM_000218.2(KCNQ1):c.1394-8C>T rs371488379
NM_000218.2(KCNQ1):c.1455C>T (p.Phe485=) rs17215465
NM_000218.2(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.2(KCNQ1):c.1514+3G>A rs374767819
NM_000218.2(KCNQ1):c.1514+9C>T rs770840921
NM_000218.2(KCNQ1):c.1590+14T>C rs11024034
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.1794+11G>A rs186188610
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.477+9C>T rs28730664
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.585delG (p.Lys196Serfs) rs397508120
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.972C>T (p.Val324=) rs554518844
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.5(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.5(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.5(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000335.4(SCN5A):c.2436+12G>A rs41312419
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000890.3(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000890.3(KCNJ5):c.591G>A (p.Ala197=) rs750048771
NM_000890.4(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103
NM_000890.4(KCNJ5):c.273C>T (p.Leu91=) rs146853795
NM_000890.4(KCNJ5):c.957G>A (p.Arg319=) rs192889782
NM_003098.2(SNTA1):c.1350C>T (p.Phe450=) rs116747979
NM_003098.2(SNTA1):c.317G>A (p.Arg106Gln) rs75025585
NM_003098.2(SNTA1):c.497-7C>T rs116972153
NM_003098.2(SNTA1):c.555C>T (p.Val185=) rs34995247
NM_003098.2(SNTA1):c.807T>C (p.Asn269=) rs73270015
NM_003098.2(SNTA1):c.828G>A (p.Lys276=) rs35938843
NM_003098.2(SNTA1):c.984C>T (p.Pro328=) rs138863915
NM_003098.2(SNTA1):c.993C>T (p.Arg331=) rs143309917
NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576
NM_005751.4(AKAP9):c.10221G>A (p.Glu3407=) rs200711005
NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633
NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=) rs1063243
NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664
NM_005751.4(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510
NM_005751.4(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367
NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val) rs34327395
NM_005751.4(AKAP9):c.10845G>A (p.Lys3615=) rs138739292
NM_005751.4(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919
NM_005751.4(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.4(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.4(AKAP9):c.11580T>G (p.Gly3860=) rs756398963
NM_005751.4(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750
NM_005751.4(AKAP9):c.119G>A (p.Arg40Lys) rs755408339
NM_005751.4(AKAP9):c.1301G>A (p.Arg434Gln) rs60031334
NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) rs35669569
NM_005751.4(AKAP9):c.158A>G (p.His53Arg) rs142125596
NM_005751.4(AKAP9):c.2477T>C (p.Ile826Thr) rs534185372
NM_005751.4(AKAP9):c.2581T>C (p.Tyr861His) rs61757557
NM_005751.4(AKAP9):c.2782T>C (p.Leu928=) rs34370932
NM_005751.4(AKAP9):c.3075C>T (p.Thr1025=) rs1989779
NM_005751.4(AKAP9):c.3430T>C (p.Cys1144Arg) rs141039834
NM_005751.4(AKAP9):c.3504A>G (p.Glu1168=) rs13245393
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353
NM_005751.4(AKAP9):c.4004_4006dupAAC (p.Lys1335_Leu1336insGln) rs10644111
NM_005751.4(AKAP9):c.4164G>A (p.Ser1388=) rs146831402
NM_005751.4(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565
NM_005751.4(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505
NM_005751.4(AKAP9):c.4293G>A (p.Leu1431=) rs151197146
NM_005751.4(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768
NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) rs144888041
NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935
NM_005751.4(AKAP9):c.5610T>C (p.His1870=) rs150332727
NM_005751.4(AKAP9):c.5725G>A (p.Ala1909Thr) rs200844952
NM_005751.4(AKAP9):c.5778C>T (p.Gly1926=) rs10236397
NM_005751.4(AKAP9):c.5978-4A>G rs147494754
NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671
NM_005751.4(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383
NM_005751.4(AKAP9):c.6249C>T (p.Phe2083=) rs139770404
NM_005751.4(AKAP9):c.6945+8C>T rs733957
NM_005751.4(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833
NM_005751.4(AKAP9):c.747A>G (p.Glu249=) rs78515732
NM_005751.4(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551
NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867
NM_005751.4(AKAP9):c.8665C>T (p.Leu2889=) rs10228334
NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242
NM_005751.4(AKAP9):c.9145C>T (p.Leu3049=) rs28927678
NM_005751.4(AKAP9):c.9181C>T (p.Leu3061=) rs775991910
NM_005751.4(AKAP9):c.9214-6T>C rs377532409
NM_005751.4(AKAP9):c.9358+10A>G rs180926926
NM_005751.4(AKAP9):c.9648A>G (p.Lys3216=) rs146710448
NM_005751.4(AKAP9):c.971T>C (p.Ile324Thr) rs367857951
NM_005751.4(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282
NM_033337.2(CAV3):c.-33G>T rs72546666
NM_033337.2(CAV3):c.-37G>A rs116840771
NM_033337.2(CAV3):c.123T>C (p.Phe41=) rs13087941
NM_033337.2(CAV3):c.171G>A (p.Val57=) rs61147808
NM_033337.2(CAV3):c.27C>T (p.Leu9=) rs1974763
NM_033337.2(CAV3):c.417C>T (p.Val139=) rs147250678
NM_033337.2(CAV3):c.99C>T (p.Asn33=) rs1008642
NM_174934.3(SCN4B):c.-15G>A rs777218649
NM_174934.3(SCN4B):c.174C>T (p.Cys58=) rs45539032
NM_174934.3(SCN4B):c.607G>A (p.Val203Met) rs150312046
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_198056.2(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_198056.2(SCN5A):c.2437-5C>A rs72549411
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) rs41313033
NM_198056.2(SCN5A):c.4437+13C>T rs148598985
NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) rs45437099
NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) rs370114378
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) rs560476223
NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) rs538707712
NM_198056.2(SCN5A):c.687T>C (p.Thr229=) rs770390440
NM_198056.2(SCN5A):c.87A>G (p.Ala29=) rs6599230

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.