ClinVar Miner

Variants with conflicting interpretations between Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and Ambry Genetics

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute: Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
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
424 378 0 112 53 1 10 176

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 0 0 0
likely pathogenic 6 0 5 1 0
uncertain significance 1 3 0 38 8
likely benign 0 0 6 0 67
benign 0 0 1 34 0
other 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 176
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059 0.00396
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00373
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn) rs183812948 0.00250
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187 0.00088
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) rs149678604 0.00068
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097 0.00063
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_014000.3(VCL):c.1297C>T (p.Arg433Cys) rs139559937 0.00026
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943 0.00011
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00011
NM_004006.3(DMD):c.7323T>C (p.Thr2441=) rs201919981 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_000384.3(APOB):c.12736T>G (p.Phe4246Val) rs200260789 0.00007
NM_002471.4(MYH6):c.2685G>A (p.Ala895=) rs752345245 0.00006
NM_178172.6(GPIHBP1):c.191G>A (p.Arg64Gln) rs578073937 0.00006
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897 0.00004
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105 0.00003
NM_002471.4(MYH6):c.635C>T (p.Ala212Val) rs780456381 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) rs1131653 0.00002
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) rs376555924 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075 0.00002
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.2241C>T (p.Gly747=) rs755910458 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000384.3(APOB):c.10734C>T (p.Phe3578=) rs773361538 0.00001
NM_000384.3(APOB):c.5693C>G (p.Ser1898Cys) rs769220751 0.00001
NM_000384.3(APOB):c.9445G>A (p.Asp3149Asn) rs759354804 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_001103.4(ACTN2):c.375C>T (p.Gly125=) rs781385336 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001148.6(ANK2):c.3882C>T (p.Asn1294=) rs780187690 0.00001
NM_002471.4(MYH6):c.2547G>A (p.Lys849=) rs770629886 0.00001
NM_002471.4(MYH6):c.3876G>A (p.Gln1292=) rs145290322 0.00001
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser) rs746333083 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.149G>A (p.Arg50Gln) rs1465696669
NM_000384.3(APOB):c.4796G>A (p.Arg1599His) rs746414462
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) rs2077524952
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs) rs774150500
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr) rs374340343
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) rs786205707
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083

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