ClinVar Miner

Variants with conflicting interpretations between Color Health, Inc and CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
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
233 532 0 130 110 0 7 247

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 1 0 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 0 5 0 10 1
likely benign 0 1 94 0 66
benign 0 0 5 60 0

All variants with conflicting interpretations #

Total variants: 247
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.3117T>C (p.Ser1039=) rs1559061716
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000138.4(FBN1):c.6054C>T (p.Val2018=) rs542953863
NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) rs200816828
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=) rs1565628536
NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=) rs758253767
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=) rs757832991
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.2859C>T (p.Asp953=) rs370800700
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=) rs1216521596
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347
NM_000257.4(MYH7):c.4668C>A (p.Gly1556=) rs762762532
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=) rs763538103
NM_000257.4(MYH7):c.5013C>T (p.Ile1671=) rs779978846
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=) rs747252861
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr) rs397516275
NM_000258.2(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.373-10= rs7252610
NM_000363.5(TNNI3):c.384G>A (p.Leu128=) rs373130533
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000432.3(MYL2):c.275-7G>A rs373241541
NM_000432.3(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.3(MYL2):c.92_93+1del rs751392310
NM_000432.3(MYL2):c.94-3C>T rs112865045
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.3(RYR2):c.10725+4A>T rs116444428
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.3(RYR2):c.2204-7C>G rs147479514
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.2719-4T>A rs397516523
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=) rs376792533
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.463+6C>T rs397516533
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=) rs533362755
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.3(RYR2):c.8896-9T>C rs773401697
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400
NM_001276345.2(TNNT2):c.200-4C>G rs397516448
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_001276345.2(TNNT2):c.610-10C>T rs375547142
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) rs547406532
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.3652-6C>T rs193922630
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118
NM_002474.3(MYH11):c.5787-4707C>G rs111588143
NM_002474.3(MYH11):c.5787-4708C>G rs200884440
NM_002474.3(MYH11):c.5787-4714dup rs747392139
NM_002474.3(MYH11):c.5787-4727C>T rs745371874
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.4(DSP):c.7848G>A (p.Ser2616=) rs148798300
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088
NM_005902.4(SMAD3):c.401-7C>T rs774268232
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442
NM_016203.4(PRKAG2):c.*2C>T rs199559205
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454
NM_024334.2(TMEM43):c.-3A>T rs763829810
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.474+5C>T rs397517400
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204

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